Immunology

Select a pre-curated test, combine multiple tests, or customize your own test for each patient. Invitae’s pricing is per clinical area for initial order and re-requisition.

All the tests on this page fall into a single clinical area. If your order contains tests from multiple clinical areas, you will need to send in two sample tubes and your order will represent two billable events. Your test results will be delivered as two reports. Please contact Client Services with any questions.

207 genes

Invitae Primary Immunodeficiency Panel

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Genetic testing for 207 genes that are associated with primary immunodeficiencies (PIDs).

GENES TESTED:

ACD ACP5 ACTB ADA ADA2 ADAM17 ADAR AICDA AIRE AK2 AP3B1 ATM B2M BCL10 BLNK BLOC1S6 BTK CARD11 CARD14 CARD9 CASP10 CASP8 CD247 CD27 CD3D CD3E CD3G CD40LG CD79A CD79B CD8A CEBPE CHD7 CIITA CLPB COPA CORO1A CR2 CSF2RA CSF3R CTC1 CTLA4 CTPS1 CTSC CXCR4 CYBA CYBB DCLRE1B DCLRE1C DKC1 DNMT3B DOCK2 DOCK8 ELANE EPG5 FADD FAS FASLG FERMT3 FOXN1 FOXP3 FPR1 G6PC3 GATA2 GFI1 HAX1 ICOS IFIH1 IFNGR1 IFNGR2 IGLL1 IKBKB IL10 IL10RA IL10RB IL12B IL12RB1 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL2RA IL2RG IL36RN IL7R IRAK4 IRF7 IRF8 ISG15 ITCH ITGB2 ITK JAGN1 JAK3 LAMTOR2 LCK LIG4 LPIN2 LRBA LYST MAGT1 MALT1 MAP3K14 MEFV MOGS MVK MYD88 NBN NCF2 NCF4 NFAT5 NFKB2 NFKBIA NHEJ1 NHP2 NLRC4 NLRP12 NLRP3 NOD2 NOP10 ORAI1 PARN PGM3 PIK3CD PIK3R1 PLCG2 PMS2 PNP POLE PRF1 PRKCD PRKDC PSMB8 PSTPIP1 PTPRC RAB27A RAC2 RAG1 RAG2 RBCK1 RFX5 RFXANK RFXAP RHOH RMRP RNASEH2A RNASEH2B RNASEH2C RORC RTEL1 SAMHD1 SEMA3E SH2D1A SH3BP2 SLC29A3 SLC35C1 SLC37A4 SLC7A7 SMARCAL1 SP110 SPINK5 STAT1 STAT2 STAT3 STAT5B STIM1 STK4 STX11 STXBP2 TAP1 TAP2 TAPBP TAZ TBK1 TCN2 TERC TERT TICAM1 TINF2 TLR3 TMC6 TMC8 TMEM173 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFSF12 TPP2 TRAF3 TRAF3IP2 TREX1 TRNT1 TTC7A TYK2 UNC13D UNC93B1 UNG VPS13B VPS45 WAS WIPF1 XIAP ZAP70 ZBTB24

up to 32 genes

Invitae Agammaglobulinemia Panel

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Genetic testing for up to 32 genes that are associated with agammaglobulinemia, hypogammaglobulinemia, and B-cell deficiencies, a group of congenital immunodeficiencies that are characterized by early onset repetitive bacterial infections associated with low levels of serum immunoglobulins.

GENES TESTED:

Primary Panel:
BLNK BTK CD79A CD79B IGLL1 PIK3R1

Add-on Hypogammaglobulinemia Genes:
GATA2 MOGS SH2D1A TRNT1 XIAP

GATA2 deficiency, MOGS-congenital disorder of glycosylation (CDG-IIb), X-linked lymphoproliferative disorder, and TRNT1 can all cause hypogammaglobulinemia. Given the clinical overlap between patients with agammaglobulinemia and hypogammaglobulinemia, analyzing these genes may be appropriate. These genes can be included at no additional charge.

Add-on Common Variable Immunodeficiency Genes:
CD27 CR2 CTLA4 DCLRE1C ICOS IL21 IL21R JAK3 LRBA NFKB2 PIK3CD PIK3R1 PLCG2 PRKCD RAC2 RAG1 STAT3 STXBP2 TNFRSF13B TNFRSF13C TNFSF12

Patients with CVID can have immunoglobulin levels that look similar to agammaglobulinemia or hypogammaglobulinemia. Given the clinical overlap between patients with agammaglobulinemia or hypogammaglobulinemia and CVID, analyzing these genes may be appropriate. These genes can be included at no additional charge.

up to 32 genes

Invitae Common Variable Immunodeficiency Panel

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Genetic testing for up to 32 genes that are associated with common variable immunodeficiency (CVID).

GENES TESTED:

Primary Panel:
CD27 CR2 CTLA4 ICOS IL21 IL21R LRBA NFKB2 PIK3CD PIK3R1 PLCG2 PRKCD RAC2 STAT3 TNFRSF13B TNFRSF13C TNFSF12

Add-on Genes for Primary Immunodeficiencies That Can Mimic Common Variable Immunodeficiency:
DCLRE1C GATA2 JAK3 RAG1 STXBP2

Recently, studies in the literature have reported patients that have been originally diagnosed with CVID, which later turned out to be different primary immunodeficiencies (PMID: 24726394, 25516070, 24996264, 26182690, 26476407, 27379089). Given that patients with these disorders may present with a CVID like phenotype, these genes can be included at no additional charge.

Add-on Agammaglobulinemia/Hypogammaglobulinemia Genes:
BLNK BTK CD79A CD79B GATA2 IGLL1 MOGS SH2D1A TRNT1 XIAP

Patients with agammaglobulinemia or hypogammaglobulinemia can have immunoglobulin levels that look similar to CVID. Given the clinical overlap between patients with agammaglobulinemia or hypogammaglobulinemia and CVID, analyzing these genes may be appropriate. These genes can be included at no additional charge.

4 genes

Invitae Hyper IgE Syndrome Panel

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Genetic testing of four genes associated with Hyper IgE syndrome, a rare primary immunodeficiency characterized by elevated serum IgE, eosinophilia, dermatitis, and recurrent skin and lung infections.

GENES TESTED:

DOCK8 PGM3 SPINK5 STAT3

up to 6 genes

Invitae Hyper IgM Syndrome Panel

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Genetic testing of up to six genes associated with hyper IgM syndrome, a rare primary immunodeficiency characterized by immunoglobulin abnormalities and recurrent infections.

GENES TESTED:

Primary Panel:
AICDA CD40LG UNG

Add-on Clinically-overlapping Genes:
BTK IL2RG SH2D1A

Pathogenic changes in BTK, IL2RG, and SH2D1A have been reported in males with a hyper IgM phenotype. Given the clinical overlap, clinicians can choose to expand their search. These genes can be added at no additional charge.

26 genes

Invitae Autoinflammatory Syndromes Panel

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Genetic testing for 26 genes that are associated with autoinflammatory syndromes.

GENES TESTED:

ADA2 ADAM17 CARD14 COPA ELANE IL10 IL10RA IL10RB IL1RN IL36RN LPIN2 MEFV MVK NFAT5 NLRC4 NLRP12 NLRP3 NOD2 PLCG2 PSMB8 PSTPIP1 RBCK1 SH3BP2 SLC29A3 TNFRSF1A TRNT1

4 genes

Invitae Familial Cold Autoinflammatory Syndrome Panel

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Genetic testing for four genes that are associated with familial cold autoinflammatory syndrome (FACS).

GENES TESTED:

NLRC4 NLRP12 NLRP3 PLCG2

up to 12 genes

Invitae Familial Mediterranean Fever Test

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Genetic testing of the MEFV gene, the only known cause of familial Mediterranean fever (FMF).

GENES TESTED:

Primary Panel:
MEFV

Add-on Additional Periodic Fever Syndromes Genes:
ADA2 ELANE LPIN2 MVK NLRC4 NLRP12 NLRP3 PSMB8 PSTPIP1 TNFRSF1A TRNT1

Phenotypic features of FMF can overlap with other periodic fever syndromes. Given the significant phenotypic overlap between these conditions, analyzing other genes associated with periodic fever syndromes may be appropriate. These genes may be included at no additional charge.

46 genes

Invitae Monogenic Inflammatory Bowel Disease Panel

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Genetic testing of 46 genes that are associated with primary immunodeficiencies resulting in pediatric onset inflammatory bowel disease (IBD).

GENES TESTED:

ADA ADAM17 AICDA BTK CD3G CD40LG CTLA4 CYBA CYBB DCLRE1C DKC1 DOCK8 FOXP3 G6PC3 ICOS IL10 IL10RA IL10RB IL21 IL2RA IL2RG ITGB2 LIG4 LRBA MEFV MVK NCF2 NCF4 NFAT5 NLRC4 PIK3CD PIK3R1 PLCG2 RAG1 RAG2 RTEL1 SH2D1A SLC37A4 STAT1 STAT3 STIM1 STXBP2 TTC7A WAS XIAP ZAP70

12 genes

Invitae Periodic Fever Syndromes Panel

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Genetic testing for 12 genes that are associated with periodic fever syndromes.

GENES TESTED:

ADA2 ELANE LPIN2 MEFV MVK NLRC4 NLRP12 NLRP3 PSMB8 PSTPIP1 TNFRSF1A TRNT1

up to 85 genes

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

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Genetic testing for up to 85 genes that are associated with severe combined immunodeficiency (SCID) and combined immunodeficiency (CID).

GENES TESTED:

Primary Panel:
ADA AK2 B2M BCL10 CARD11 CD247 CD27 CD3D CD3E CD3G CD40LG CD8A CIITA CORO1A CTPS1 DCLRE1C DOCK2 DOCK8 ICOS IKBKB IL21 IL21R IL2RG IL7R ITK JAK3 LCK LIG4 LRBA MAGT1 MALT1 MAP3K14 NHEJ1 PNP PRKDC PTPRC RAC2 RAG1 RAG2 RFX5 RFXANK RFXAP RHOH STK4 TAP1 TAP2 TAPBP TNFRSF4 ZAP70

Add-on Combined Immunodeficiency (CID) with Syndromic Features Genes:
ACD ATM CHD7 CTC1 DCLRE1B DKC1 DNMT3B EPG5 FOXN1 NBN NFKBIA NHP2 NOP10 ORAI1 PARN PGM3 PMS2 POLE RMRP RTEL1 SEMA3E SMARCAL1 SP110 SPINK5 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT TINF2 TTC7A WAS WIPF1 ZBTB24

Combined immunodeficiencies (CID) with syndromic features have significant overlap of immunological findings compared to patients with non-syndromic CID. Especially at very early ages, some syndromic features may be difficult to identify or have not yet manifested. Given the significant overlap between syndromic and non-syndromic CID and the difficulty in differentiating between the syndromic and non-syndromic forms early in life, analyzing the genes associated with syndromic CID may be appropriate. These genes can be included at no additional charge.

up to 86 genes

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for genes that are associated with severe combined immunodeficiency (SCID).

GENES TESTED:

Primary Panel:
ADA AK2 CD247 CD3D CD3E CORO1A DCLRE1C IL2RG IL7R JAK3 LIG4 NHEJ1 PNP PRKDC PTPRC RAG1 RAG2 ZAP70

Add-on Combined Immunodeficiency (CID) Genes:
B2M BCL10 CARD11 CD27 CD3G CD40LG CD8A CIITA CTPS1 DOCK2 DOCK8 ICOS IKBKB IL21 IL21R ITK LCK LRBA MAGT1 MALT1 MAP3K14 RAC2 RFX5 RFXANK RFXAP RHOH STK4 TAP1 TAP2 TAPBP TNFRSF4 ZAP70

Recent data from newborn screening laboratories have shown that some CID patients can be identified through SCID newborn screening (PMID: 25138334). Given the immunological presentation overlap between SCID and CID and the difficulty in differentiating between SCID and CID on newborn screening assays, analyzing the CID genes may be appropriate. This gene can be included at no additional charge.

Add-on Combined Immunodeficiency (CID) with Syndromic Features Genes:
ACD ATM CHD7 CTC1 DCLRE1B DKC1 DNMT3B EPG5 FOXN1 NBN NFKBIA NHP2 NOP10 ORAI1 PARN PGM3 PMS2 POLE RMRP RTEL1 SEMA3E SMARCAL1 SP110 SPINK5 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT TINF2 TTC7A WAS WIPF1 ZBTB24

Combined immunodeficiencies (CID) with syndromic features have significant overlap of immunological findings compared to patients with non-syndromic CID. Especially at very early ages, some syndromic features may be difficult to identify or have not yet manifested. In addition, recent data from newborn screening laboratories have shown that some CID patients can be identified through SCID newborn screening (PMID: 25138334). Given the significant overlap between syndromic and non-syndromic CID as well as the ability to detect syndromic CID on SCID newborn screening, analyzing the genes associated with syndromic CID may be appropriate. These genes can be included at no additional charge.

2 genes

Invitae T-B-NK- Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for the ADA and AK2 genes which are associated with severe combined immunodeficiency (SCID) due to near-complete absence of T, B and natural killer (NK) lymphocytes. Although the lymphocyte profile observed in patients with pathogenic variants in ADA and AK2 are both T/B/NK deficient, the clinical presentations are distinct.

GENES TESTED:

ADA AK2

6 genes

Invitae T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for 6 genes that are associated with T-cell negative, B-cell negative, NK-cell positive severe combined immunodeficiency (SCID).

GENES TESTED:

DCLRE1C LIG4 NHEJ1 PRKDC RAG1 RAG2

2 genes

Invitae T-B+NK- Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for the IL2RG and JAK3 genes which are associated with severe combined immunodeficiency (SCID) due to near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes.

GENES TESTED:

IL2RG JAK3

6 genes

Invitae T-B+NK+ Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for 6 genes that are associated with T-cell negative, B-cell positive, NK-cell positive severe combined immunodeficiency (SCID).

GENES TESTED:

CD247 CD3D CD3E CORO1A IL7R PTPRC

1 gene

Invitae X-Linked Severe Combined Immunodeficiency (SCID) Test

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Genetic testing for IL2RG, associated with X-linked severe combined immunodeficiency (X-SCID), a condition characterized by severe immunodeficiency and near-complete absence of T and natural killer (NK) lymphocytes and nonfunctional B lymphocytes.

GENES TESTED:

IL2RG

4 genes

Invitae Radiation-Sensitive Severe Combined Immunodeficiency (SCID) Panel

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Genetic testing for 4 genes that are associated with radiation-sensitive severe combined immunodeficiency (RS-SCID), causing severe combined immunodeficiency as well as increased sensitivity to ionizing radiation.

GENES TESTED:

DCLRE1C LIG4 NHEJ1 PRKDC

up to 68 genes

Invitae Combined Immunodeficiency (CID) Panel

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Genetic testing for up to 69 genes that are associated with combined immunodeficiency (CID).

GENES TESTED:

Primary Panel:
B2M BCL10 CARD11 CD27 CD3G CD40LG CD8A CIITA CTPS1 DOCK2 DOCK8 ICOS IKBKB IL21 IL21R ITK LCK LRBA MAGT1 MALT1 MAP3K14 RAC2 RFX5 RFXANK RFXAP RHOH STK4 TAP1 TAP2 TAPBP TNFRSF4 ZAP70

Add-on Combined Immunodeficiencies (CID) with Syndromic Features:
ACD ATM CHD7 CTC1 DCLRE1B DKC1 DNMT3B EPG5 FOXN1 NBN NFKBIA NHP2 NOP10 ORAI1 PARN PGM3 PMS2 POLE RMRP RTEL1 SEMA3E SMARCAL1 SP110 SPINK5 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT TINF2 TTC7A WAS WIPF1 ZBTB24

Combined immunodeficiencies (CID) with syndromic features have significant overlap of immunological findings compared to patients with non-syndromic CID. Especially at very early ages, some syndromic features may be difficult to identify or have not yet manifested. Given the significant overlap between syndromic and non-syndromic CID and the difficulty in differentiating between the syndromic and non-syndromic forms early in life, analyzing the genes associated with syndromic CID may be appropriate. These genes can be included at no additional charge.

37 genes

Invitae Syndromic Combined Immunodeficiency (CID) Panel

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Genetic testing for up to 37 genes that are associated with syndromic combined immunodeficiency diseases (CID).

GENES TESTED:

ACD ATM CHD7 CTC1 DCLRE1B DKC1 DNMT3B EPG5 FOXN1 NBN NFKBIA NHP2 NOP10 ORAI1 PARN PGM3 PMS2 PNP POLE RMRP RTEL1 SEMA3E SMARCAL1 SP110 SPINK5 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT TINF2 TTC7A WAS WIPF1 ZBTB24

up to 11 genes

Invitae Chronic Mucocutaneous Candidiasis Panel

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Genetic testing for up to 11 genes that are associated with chronic mucocutaneous candidiasis (CMC) causing an increased susceptibility to candidal infections.

GENES TESTED:

Primary Panel:
IL17F IL17RA IL17RC TRAF3IP2

Add-on Syndromic Chronic Mucocutaneous Candidiasis Genes:
AIRE CARD9 IL12B IL12RB1 RORC STAT1 STAT3

Patients with syndromic CMC will have Candida infections in addition to other clinical and infectious phenotypes. Given that Candida infections can be a presenting feature of these disorders, analyzing the genes associated with syndromic CMC may be appropriate. These genes can be included at no additional charge.

4 genes

Invitae Epidermodysplasia Verruciformis Panel

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Genetic testing for 4 genes associated with epidermodysplasia verruciformis (EV).

GENES TESTED:

CXCR4 RHOH TMC6 TMC8

up to 7 genes

Invitae Herpes Simplex Encephalitis Panel

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Genetic testing for up to 7 genes that are associated with herpes simplex encephalitis (HSE).

GENES TESTED:

Primary Panel:
TBK1 TICAM1 TLR3 TRAF3 UNC93B1

Add-on Predisposition to Multiple Viral Infections Genes:
STAT1 TYK2

Patients with STAT1 and TYK2 deficiencies have been reported with numerous viral infections including HSE and mycobacterial disease. Given that these patients are also susceptible to HSE, analyzing theses gene may be appropriate. These genes can be added at no additional charge.

16 genes

Invitae Mendelian Susceptibility to Mycobacterial Disease Panel

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Genetic testing for up to 16 genes associated with mendelian susceptibility to mycobacterial disease (MSMD) resulting in susceptibility to develop mycobacterial and other infections.

GENES TESTED:

ACP5 ADAR CYBB GATA2 IFNGR1 IFNGR2 IL12B IL12RB1 IRAK4 IRF8 ISG15 MYD88 SAMHD1 STAT1 STAT2 TYK2

73 genes

Invitae Monogenic Autoimmunity Panel

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Genetic testing for 73 genes that are associated with monogenic autoimmunity.

GENES TESTED:

ACP5 ADA2 ADAR AICDA AIRE AP3B1 BLOC1S6 BTK CASP10 CASP8 CD27 CD40LG CR2 CTLA4 CYBA CYBB DOCK8 FADD FAS FASLG FOXP3 ICOS IFIH1 IL10 IL10RA IL10RB IL21 IL21R IL2RA ITCH LRBA LYST NCF2 NCF4 NFAT5 NFKB2 NFKBIA ORAI1 PIK3CD PIK3R1 PLCG2 PNP PRF1 PRKCD RAB27A RAC2 RFX5 RFXANK RFXAP RMRP RNASEH2A RNASEH2B RNASEH2C SAMHD1 SH2D1A SLC7A7 STAT1 STAT3 STAT5B STIM1 STX11 STXBP2 TBX1 TMEM173 TNFRSF13B TNFRSF13C TNFSF12 TPP2 TREX1 UNC13D UNG WAS XIAP

up to 10 genes

Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel

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Genetic testing for up to 10 genes that are associated with predisposition to autoimmune lymphoproliferative disorders (ALPS).

GENES TESTED:

Primary Panel:
CASP8 CTLA4 FAS FASLG ITK MAGT1 PIK3CD PRKCD

Add-on Preliminary-evidence Genes for Autoimmune Lymphoproliferative Disorders (ALPS):
CASP10 FADD

In addition to the primary panel, clinicians can also choose to include 2 genes that have preliminary evidence of association with ALPS. At this time, the association of these genes with ALPS remains uncertain, but some clinicians may wish to include genes that may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.

21 genes

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

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Genetic testing for 21 genes that are associated with hereditary hemophagocytic lymphohistiocytosis (HLH).

GENES TESTED:

ADA AP3B1 BLOC1S6 BTK CD27 IL2RA IL2RG ITK LYST MAGT1 MVK PNP PRF1 RAB27A SH2D1A SLC7A7 STX11 STXBP2 UNC13D WAS XIAP

27 genes

Invitae Phagocyte Defects Panel

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Genetic testing for up to 27 genes that are associated with hereditary phagocyte defects (HPD).

GENES TESTED:

CEBPE CLPB CSF2RA CSF3R CTSC CYBA CYBB ELANE FERMT3 FPR1 G6PC3 G6PD GFI1 HAX1 ITGB2 JAGN1 LAMTOR2 NCF2 NCF4 PMM2 SLC35C1 SLC37A4 SPINK5 TAZ VPS13B VPS45 WAS

7 genes

Invitae Dyskeratosis Congenita Panel

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Genetic testing for 7 genes that are associated with dyskeratosis congenita (DC)—a condition characterized by abnormal skin pigmentation, nail dystrophy, oral leukoplakia, and increased risk of progressive bone marrow failure and development of malignancies.

GENES TESTED:

CTC1 DKC1 NHP2 NOP10 TERC TERT TINF2

2 genes

Invitae Immunodeficiency, Centromeric Instability, Facial Anomalies Syndrome Panel

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Genetic testing for 2 genes that are associated with immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome.

GENES TESTED:

DNMT3B ZBTB24

Gene
A
ACD
Synonym(s): PIP1; POT1- AND TIN2-ORGANIZING PROTEIN; POT1-INTERACTING PROTEIN 1; PTOP; TELOMERE PROTEIN TPP1; TIN2-INTERACTING PROTEIN 1; TINT1; TPP1

The ACD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and recessive dyskeratosis congenita (DC) (PMID: 25233904, 25205116) and increased susceptibility to melanoma (PMID: 25505254, 26488006).

Synonym(s): HPAP; TRACP5a; TRACP5b; TRAP; TrATPase

The ACP5 gene is associated with autosomal recessive spondyloenchondrodysplasia with immune dysregulation (SED) (MedGen UID: 375009).

Synonym(s): BRWS1; PS1TP5BP1

The ACTB gene is associated with autosomal dominant Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome (MedGen UID: 340943). Additionally, the ACTB gene has preliminary evidence supporting a correlation with juvenile-onset dystonia (PMID: 25052316, 16685646).

ADA

The ADA gene is associated with autosomal recessive severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (MedGen UID: 354935).

Synonym(s): ADA2; ADGF; CECR1; IDGFL; PAN; SNEDS

The ADA2 gene is associated with autosomal recessive polyarteritis nodosa (PAN) (MedGen UID: 14681).

Synonym(s): ADAM18; CD156B; CSVP; NISBD; NISBD1; TACE

The ADAM17 gene is associated with autosomal recessive inflammatory skin and bowel disease, neonatal, 1 (MedGen UID: 482131).

Synonym(s): ADAR1; AGS6; DRADA; DSH; DSRAD; G1P1; IFI-4; IFI4; K88DSRBP; P136

The ADAR gene is associated with autosomal dominant dyschromatosis symmetrica hereditaria (DSH) (MedGen UID: 96071). Additionally, the ADAR gene has preliminary evidence supporting a correlation with autosomal recessive Aicardi Goutieres syndrome (AGS) (PMID: 23001123).

Synonym(s): AID; ARP2; CDA2; HEL-S-284; HIGM2

The AICDA gene is associated with autosomal recessive hyper-IgM syndrome type 2 (HIGM2) (MedGen UID: 354548).

Synonym(s): AIRE1; APECED; APS1; APSI; PGA1

The AIRE gene is associated with autosomal recessive and autosomal dominant autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia (APECED) (MedGen UID: 39125).

AK2
Synonym(s): ADK2

The AK2 gene is associated with autosomal recessive reticular dysgenesis, a rare form of severe combined immunodeficiency (MedGen UID: 124417).

Synonym(s): ADTB3; ADTB3A; HPS; HPS2; PE

The AP3B1 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 2 (HPS2)(MedGen UID: 374912).

ATM
Synonym(s): AT1; ATA; ATC; ATD; ATDC; ATE; TEL1; TELO1

The ATM gene is associated with an increased risk for autosomal dominant breast and pancreatic cancer (PMID: 15928302, 15942625, 16998505, 22585167, 26483394, 26662178). There is also preliminary evidence supporting a correlation with autosomal dominant colorectal, prostate, and possibly other cancers (PMID: 15928302, 15942625, 26662178). Additionally, the ATM gene is associated with autosomal recessive ataxia-telangiectasia (A-T) (MedGen UID: 439).

B
B2M
Synonym(s): IMD43

The B2M gene is associated with autosomal recessive hereditary major histocompatibility complex class I deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (PMID: 25702838). Additionally, the B2M gene has preliminary evidence supporting a correlation with autosomal dominant amyloidosis (PMID: 22693999).

Synonym(s): c-E10; CARMEN; CIPER; CLAP; IMD37; mE10

The BCL10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with combined immunodeficiency (MedGen UID: 808100).

Synonym(s): AGM4; BASH; bca; BLNK-S; LY57; SLP-65; SLP65

The BLNK gene is associated with autosomal recessive agammaglobulinemia (MedGen UID: 462102).

Synonym(s): BLOS6; HPS9; PA; PALLID; PLDN

The BLOC1S6 gene is associated with autosomal recessive Hermansky-Pudlak syndrome 9 (HPS9)(MedGen UID: 481656).

BTK
Synonym(s): AGMX1; AT; ATK; BPK; IMD1; PSCTK1; XLA

The BTK gene is associated with X-linked recessive agammaglobulinemia (XLA) (MedGen UID: 65123). Additionally, the BTK gene has preliminary evidence supporting a correlation with agammaglobulinemia with isolated growth hormone deficiency (PMID: 7189577, 1872183, 2299506).

C
Synonym(s): BENTA; BIMP3; CARMA1; IMD11; PPBL

The CARD11 gene is associated with autosomal recessive combined immunodeficiency (MedGen UID 767600) and autosomal dominant B-cell expansion with NFKB and T-cell anergy (BENTA) (MedGen UID 850732).

Synonym(s): BIMP2; CARMA2; PRP; PSORS2; PSS1

The CARD14 gene is associated with autosomal dominant CAMPS (CARD14 mediated psoriasis) (MedGen UID: 351141). Additionally, the CARD14 gene has preliminary evidence supporting a correlation with autosomal dominant pityriasis rubra pilaris (MedGen UID: 45939).

Synonym(s): CANDF2; hCARD9

The CARD9 gene is associated with autosomal recessive familial candidiasis 2 (CANDF2) (MedGen UID: 347128).

Synonym(s): ALPS2; FLICE2; MCH4

The CASP10 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant and autosomal recessive autoimmune lymphoproliferative syndrome, type II (PMID: 10412980, 16446975).

Synonym(s): ALPS2B; CAP4; Casp-8; FLICE; MACH; MCH5

The CASP8 gene is associated with autosomal recessive autoimmune lymphoproliferative syndrome, type IIB (ALPS2B) (MedGen UID: 339548).

Synonym(s): CD3-ZETA; CD3H; CD3Q; CD3Z; IMD25; T3Z; TCRZ

The CD247 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 346666).

Synonym(s): S152; S152. LPFS2; T14; TNFRSF7; Tp55

The CD27 gene is associated with autosomal recessive lymphoproliferative syndrome 2 (LPFS2) (MedGen UID: 767454).

Synonym(s): CD3-DELTA; IMD19; T3D

The CD3D gene is associated with autosomal recessive severe combined immune deficiency (MedGen UID: 816477).

Synonym(s): IMD18; T3E; TCRE

The CD3E gene is associated with autosomal recessive severe combined immune deficiency (MedGen UID: 816457).

Synonym(s): CD3-GAMMA; IMD17; T3G

The CD3G gene is associated with autosomal recessive combined immunodeficiency due to CD3 gamma deficiency (MedGen UID: 816437).

Synonym(s): CD154; CD40L; gp39; hCD40L; HIGM1; IGM; IMD3; T-BAM; TNFSF5; TRAP

The CD40LG gene is associated with X-linked hyper-IgM syndrome (HIGM1) (MedGen UID: 96019).

Synonym(s): IGA; MB-1

The CD79A gene is associated with autosomal recessive agammaglobulinemia due to Ig alpha deficiency (MedGen UID: 462101).

Synonym(s): AGM6; B29; IGB

The CD79B gene is associated with autosomal recessive agammaglobulinemia due to Ig beta deficiency (MedGen UID: 461557).

Synonym(s): CD8; Leu2; MAL; p32

The CD8A gene is associated with autosomal recessive familial CD8 deficiency (MedGen UID: 323058).

Synonym(s): C/EBP-epsilon; CRP1

The CEBPE gene is associated with autosomal recessive neutrophil-specific granule deficiency (MedGen UID: 140766).

Synonym(s): CRG; HH5; IS3; KAL5

The CHD7 gene is associated with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): C2TA; CIITAIV; MHC2TA; NLRA

The CIITA gene is associated with autosomal recessive hereditary major histocompatibility complex class II deficiency (MHCII), also known as bare lymphocyte syndrome (BLS), type II (PMID: 8624807, 26549456, 8402893).

Synonym(s): ANKCLB; HSP78; MEGCANN; MGCA7; SKD3

The CLPB gene is associated wtih autosomal recessive 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) (MedGen UID: 833014).

Synonym(s): AILJK; HEP-COP

The COPA gene is associated with autosomal dominant autoimmune interstitial lung, joint, and kidney disease (AILJK) (PMID: 25894502).

Synonym(s): CLABP; CLIPINA; HCORO1; IMD8; p57; TACO

The CORO1A gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 815713).

CR2
Synonym(s): C3DR; CD21; CR; CVID7; SLEB9

The CR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive common variable immunodeficiency 7 (CVID7) (PMID: 22035880; MedGen UID: 762276).

Synonym(s): CD116; CDw116; CSF2R; CSF2RAX; CSF2RAY; CSF2RX; CSF2RY; GM-CSF-R-alpha; GMCSFR; GMR; SMDP4

The CSF2RA gene is associated with primary pulmonary alveolar proteinosis (MedGen ID: 393858).

Synonym(s): CD114; GCSFR; SCN7

The CSF3R gene is associated with autosomal dominant hereditary neutrophilia (MedGen UID: 154252) and autosomal recessive severe congenital neutropenia (PMID: 24753537, 26324699).

Synonym(s): AAF-132; AAF132; C17orf68; CRMCC; tmp494178

The CTC1 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 78580).

Synonym(s): ALPS5; CD; CD152; CELIAC3; CTLA-4; GRD4; GSE; IDDM12

The CTLA4 gene is associated with autosomal dominant autoimmune lymphoproliferative syndrome, type V (ALPS5) (MedGen UID 808124).

Synonym(s): CTPS; IMD24

The CTPS1 gene is associated with autosomal recessive combined immunodeficiency (MedGen UID: 793314).

Synonym(s): CPPI; DPP-I; DPP1; DPPI; HMS; JP; JPD; PALS; PDON1; PLS

The CTSC gene is associated with autosomal recessive Haim-Munk syndrome (HMS) (MedGen UID: 344539), Papillon-Lefevre syndrome (PALS) (MedGen UID: 45306) and aggressive periodontitis 1 (MedGen UID: 10661).

Synonym(s): CD184; D2S201E; FB22; HM89; HSY3RR; LAP-3; LAP3; LCR1; LESTR; NPY3R; NPYR; NPYRL; NPYY3R; WHIM; WHIMS

The CXCR4 gene is associated with autosomal dominant warts, hypogammaglobulinemia, infections, and myelokathexis syndrome (WHIMS) (MedGen UID: 96875).

Synonym(s): Cytochrome b alpha polypeptide; Cytochrome b light chain; Cytochrome b(558) alpha chain; Cytochrome b(558) alpha-subunit; Cytochrome b558 subunit alpha; Flavocytochrome b-558 alpha polypeptide; Neutrophil cytochrome b 22 kDa polypeptide; P22 phagocyte B-cytochrome; p22-PHOX; P22phox; Superoxide-generating NADPH oxidase light chain subunit

The CYBA gene is associated with autosomal recessive chronic granulomatous disease (CGD) (MedGen UID: 383872).

Synonym(s): AMCBX2; CGD; GP91-1; GP91-PHOX; GP91PHOX; IMD34; NOX2; p91-PHOX

The CYBB gene is associated with X-linked recessive chronic granulomatous disease (CGDX) (MedGen UID: 336165).

D
Synonym(s): APOLLO; SNM1B; SNMIB

The DCLRE1B gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome (PMID: 20479256).

Synonym(s): A-SCID; DCLREC1C; RS-SCID; SCIDA; SNM1C

The DCLRE1C gene is associated with autosomal recessive severe combined immune deficiency with sensitivity to ionizing radiation (MedGen UID: 355454).

Synonym(s): CBF5; DKC; DKCX; NAP57; NOLA4; XAP101

The DKC1 gene is associated with X-linked dyskeratosis congenita (MedGen UID: 216941).

Synonym(s): ICF; ICF1; M.HsaIIIB

The DNMT3B gene is associated with autosomal recessive immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (MedGen UID: 140770).

Synonym(s): IMD40

The DOCK2 gene is associated with autosomal recessive combined immunodeficiency (CID) due to DOCK2 deficiency (MedGen UID: 834117).

Synonym(s): HEL-205; MRD2; ZIR8

The DOCK8 gene is associated with autosomal recessive hyper-IgE syndrome (HIES) (MedGen UID: 369829).

E
Synonym(s): ELA2; GE; HLE; HNE; NE; PMN-E; SCN1

The ELANE gene is associated with autosomal dominant ELANE-related neutropenia, including both congenital (MedGen UID: 348506) and cyclical (MedGen UID: 65121).

Synonym(s): HEEW1; KIAA1632; VICIS

The EPG5 gene is associated with autosomal recessive Vici syndrome (MedGen UID: 340962).

F
Synonym(s): GIG3; MORT1

The FADD gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with an autosomal recessive ALPS-like disorder characterized by recurrent infections with encephalopathy, hepatic dysfunction, and cardiovascular malformations (PMID: 21109225).

FAS
Synonym(s): ALPS1A; APO-1; APT1; CD95; FAS1; FASTM; TNFRSF6

The FAS gene is associated with autosomal dominant autoimmune lymphoproliferative syndrome (ALPS) (MedGen UID: 231300).

Synonym(s): ALPS1B; APT1LG1; APTL; CD178; CD95-L; CD95L; FASL; TNFSF6; TNLG1A

The FASLG gene is associated with autosomal recessive autoimmune lymphoproliferative syndrome, type 1B (ALPS1B) (MedGen UID: 356158). Additionally, there is preliminary evidence supporting a correlation with an autosomal dominant autoimmune lymphoproliferative syndrome (ALPS) (PMID: 8787672, 17605793).

Synonym(s): KIND3; KINDLIN3; MIG-2; MIG2B; UNC112C; URP2; URP2SF

The FERMT3 gene is associated with autosomal recessive leukocyte adhesion deficiency, type 3 (LAD3) (MedGen UID: 411605).

Synonym(s): FKHL20; RONU; WHN

The FOXN1 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 355713).

Synonym(s): AIID; DIETER; IPEX; JM2; PIDX; XPID

The FOXP3 gene is associated with X-linked recessive immunodysregulation, polyendocrinopathy, and enteropathy (IPEX syndrome) (MedGen UID 83339).

Synonym(s): FMLP; FPR

The FPR1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant periodontitis (PMID: 10534074, 17927965).

G
Synonym(s): Glucose-6-phosphatase beta; SCN4; UGRP

The G6PC3 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 436454).

Synonym(s): G6PD1

The G6PD gene is associated with X-linked glucose-6-phosphate dehydrogenase deficiency (MedGen UID: 40355).

Synonym(s): DCML; IMD21; MONOMAC; NFE1B

The GATA2 gene is associated with autosomal dominant GATA2 deficiency (MedGen UID: 481660), including Emberger syndrome (MedGen UID: 481294).

Synonym(s): GFI-1; GFI1A; SCN2; ZNF163

The GFI1 gene is associated with autosomal dominant severe congenital neutropenia 2 (MedGen UID: 413975).

H
Synonym(s): HAX-1; HCLSBP1; HS1BP1; SCN3

The HAX1 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 807554).

I
Synonym(s): AILIM; CD278; CVID1

The ICOS gene is associated with autosomal recessive common variable immunodeficiency (CVID) (MedGen UID: 460728). In addition, the ICOS gene has preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (CID) (PMID: 26399252).

Synonym(s): AGS7; Hlcd; IDDM19; MDA-5; MDA5; RLR-2; SGMRT1

The IFIH1 gene is associated with autosomal dominant Aicardi-Goutieres syndrome (AGS) (MedGen UID: 786406) and Singleton-Merton syndrome (MedGen UID: 98481).

Synonym(s): CD119; IFNGR; IMD27A; IMD27B

The IFNGR1 gene is associated with autosomal recessive (MedGen UID: 860386) and autosomal dominant (MedGen UID: 807420) Mendelian susceptibility to mycobacterial disease.

Synonym(s): AF-1; IFGR2; IFNGT1; IMD28

The IFNGR2 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 807418).

Synonym(s): Immunoglobulin-related 14.1 protein; Lamda5, 14.1, AGM2, CD179b, IGL1, IGL5, IGLJ14.1, IGLL, IGO, IGVPB, VPREB2

The IGLL1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with agammaglobulinemia (PMID: 9419212).

Synonym(s): IKK-beta; IKK2; IKKB; IMD15; NFKBIKB

The IKBKB gene is associated with autosomal recessive combined immunodeficiency (MedGen UID: 816373).

Synonym(s): CSIF; GVHDS; IL-10; IL10A; TGIF

The IL10 gene is associated with autosomal recessive infantile onset inflammatory bowel disease (PMID: 22549091, 24216686).

Synonym(s): CD210; CD210a; CDW210A; HIL-10R; IL-10R1; IL10R

The IL10RA gene is associated with autosomal recessive early onset inflammatory bowel disease (MedGen UID: 434052).

Synonym(s): CDW210B; CRF2-4; CRFB4; D21S58; D21S66; IL-10R2

The IL10RB gene is associated with autosomal recessive inflammatory bowel disease 25 (IBD25) (MedGen UID: 393403).

Synonym(s): CLMF; CLMF2; IL-12B; IMD28; IMD29; NKSF; NKSF2

The IL12B gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease due to interleukin 12 deficiency (MedGen UID: 807417).

Synonym(s): CD212; IL-12BETA1; IL-12R-BETA1; IL12RB; IMD30

The IL12RB1 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 807419).

Synonym(s): CANDF6; IL-17F; ML-1; ML1

The IL17F gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant chronic mucocutaneous candidiasis (PMID: 21350122; MedGen UID: 462755).

Synonym(s): CANDF5; CD217; CDw217; hIL-17R; IL-17RA; IL17R

The IL17RA gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic mucocutaneous candidiasis (PMID: 21350122; MedGen UID: 462752).

Synonym(s): CANDF9; IL17-RL; IL17RL

The IL17RC gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic mucocutaneous candidiasis (PMID: 25918342; MedGen UID: 850718).

Synonym(s): DIRA; ICIL-1RA; IL-1ra; IL-1ra3; IL-1RN; IL1F3; IL1RA; IRAP; MVCD4

The IL1RN gene is associated with autosomal recessive interleukin 1 receptor antagonist deficiency (DIRA) (MedGen UID: 411230).

Synonym(s): CVID11; IL-21; Za11

The IL21 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive early onset inflammatory bowel disease and common variable immunodeficiency (CVID) (PMID: 24746753).

Synonym(s): CD360; NILR

The IL21R gene is associated with autosomal recessive combined immunodeficiency due to Interleukin 21 receptor deficiency (MedGen UID: 767601).

Synonym(s): CD25; IDDM10; IL2R; IMD41; p55; TCGFR

The IL2RA gene is associated with CD25 deficiency (MedGen UID: 377894).

Synonym(s): CD132; CIDX; IL-2RG; IMD4; P64; SCIDX; SCIDX1

The IL2RG gene is associated with X-linked recessive severe combined immunodeficiency (MedGen UID: 220906).

Synonym(s): FIL1; FIL1(DELTA); FIL1D; IL-36Ra; IL1F5; IL1HY1; IL1L1; IL1RP3; IL36RA; PSORP; PSORS14

The IL36RN gene is associated with autosomal recessive pustular psoriasis (MedGen UID: 473074).

Synonym(s): CD127; CDW127; IL-7R-alpha; IL7RA; ILRA

The IL7R gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 373235).

Synonym(s): IPD1; IRAK-4; NY-REN-64; REN64

The IRAK4 gene is associated with autosomal recessive IRAK4 deficiency (MedGen UID: 375137).

Synonym(s): IMD39; IRF-7H; IRF7A; IRF7B; IRF7C; IRF7H

The IRF7 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive severe influenza disease (PMID: 25814066).

Synonym(s): CSBP; H-ICSBP; ICSBP; ICSBP1; IMD32A; IMD32B; IRF-8

The IRF8 gene is associated with autosomal dominant Mendelian susceptibility to mycobacterial disease (MedGen UID: 814919). Additionally, the IRF8 gene has preliminary evidence supporting a correlation with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 814920).

Synonym(s): G1P2; hUCRP; IFI15; IMD38; IP17; UCRP

The ISG15 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MSMD) (MedGen UID: 863730).

Synonym(s): ADMFD; AIF4; AIP4; NAPP1

The ITCH gene is associated with autosomal recessive multisystem autoimmune disease with facial dysmorphism (ADMFD) (MedGen UID: 461999).

Synonym(s): CD18; LAD; LCAMB; LFA-1; MAC-1; MF17; MFI7

The ITGB2 gene is associated with autosomal recessive leukocyte adhesion deficiency type 1 (LAD1) (MedGen UID: 348448).

ITK
Synonym(s): EMT; LPFS1; LYK; PSCTK2

The ITK gene is associated with autosomal recessive lymphoproliferative syndrome 1(LPFS1) (MedGen UID: 414442).

J
Synonym(s): GL009; SCN6

The JAGN1 gene is associated with autosomal recessive severe congenital neutropenia 6 (SCN6) (MedGen UID: 807538).

Synonym(s): JAK-3; JAK3_HUMAN; JAKL; L-JAK; LJAK

The JAK3 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 331474).

K
L
Synonym(s): ENDAP; HSPC003; MAPBPIP; MAPKSP1AP; p14; Ragulator2; ROBLD3

The LAMTOR2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive immunodeficiency due to MAPBP-interacting protein deficiency (PMID: 17195838).

LCK
Synonym(s): IMD22; LSK; p56lck; pp58lck; YT16

The LCK gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (PMID: 22985903).

Synonym(s): DNA joinase; DNA ligase 4; DNA ligase IV; DNA repair enzyme; LIG4S; Polydeoxyribonucleotide synthase [ATP] 4); Polynucleotide ligase; Sealase

The LIG4 gene is associated with autosomal recessive LIG4 syndrome (MedGen UID: 339855).

The LPIN2 gene is associated with autosomal recessive Majeed syndrome (MedGen UID: 351273).

Synonym(s): BGL; CDC4L; CVID8; LAB300; LBA

The LRBA gene is associated with autosomal recessive common variable immunodeficiency (MedGen UID: 766426).

Synonym(s): CHS; CHS1

The LYST gene is associated with autosomal recessive Chediak-Higashi syndrome (MedGen UID: 3347).

M
Synonym(s): bA217H1.1; IAP; MRX95; OST3B; PRO0756; XMEN

The MAGT1 gene is associated with X-linked recessive MAGT1-CDG (also known as immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia [XMEN]) (MedGen UID: 477076).

Synonym(s): IMD12; MLT; MLT1; PCASP1

The MALT1 gene is associated with autosomal recessive combined immunodeficiency (MedGen UID: 815913).

Synonym(s): FTDCR1B; HS; HSNIK; NIK

The MAP3K14 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency due to NIK deficiency (PMID: 25406581).

Synonym(s): FMF; MEF; TRIM20

The MEFV gene is associated with autosomal recessive familial Mediterranean fever (FMF) (MedGen UID: 45811) and has been reported in autosomal dominant familial Mediterranean fever (FMF) (MedGen UID: 341987) (PMID: 18648395, 20485448, 23505238).

Synonym(s): CDG2B; CWH41; DER7; GCS1

MOGS is associated with autosomal recessive MOGS-congenital disorder of glycosylation (CDG-IIb) (MedGen UID 342954).

MVK
Synonym(s): LRBP; MK; MVLK; POROK3

The MVK gene is associated with autosomal recessive mevalonate kinase deficiency which encompasses hyper-IgD syndrome (MedGen UID: 140768) and autosomal recessive mevalonic aciduria (MedGen UID: 368373). In addition, the MVK gene is associated with autosomal dominant porokeratosis (MedGen UID: 401352).

Synonym(s): MYD88D

The MYD88 gene is associated with autosomal recessive recurrent pyogenic bacterial infections due to MyD88 deficiency (MedGen UID: 383023)

N
NBN
Synonym(s): AT-V1; AT-V2; ATV; NBS; NBS1; P95

The NBN gene is associated with an increased risk for autosomal dominant breast cancer in individuals who carry a single pathogenic NBN variant (PMID: 21514219, 16770759). Additionally, the NBN gene is associated with autosomal recessive Nijmegen breakage syndrome (NBS) (MedGen UID: 140771).

Synonym(s): NCF-2; NOXA2; P67-PHOX; P67PHOX

The NCF2 gene is associated with autosomal recessive chronic granulomatous disease type 2 (CGD2) (MedGen UID: 383869).

Synonym(s): CGD3; NCF; P40PHOX; SH3PXD4

The NCF4 gene is associated with autosomal recessive chronic granulomatous disease type III (CGD3) (MedGen UID: 462759).

Synonym(s): Glutamine rich protein H65; NFAT-like protein 1; Osmotic response element-binding protein; T-cell transcription factor NFAT5; TonE-binding protein; Tonicity-responsive enhancer-binding protein, NF-AT5, NFATL1, NFATZ, OREBP, TONEBP

The NFAT5 gene currently has no well established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant immunodeficiency and autoimmune enterocolopathy (PMID: 25667416).

Synonym(s): CVID10; H2TF1; LYT-10; LYT10; NF-kB2; p100; p49/p100; p52

The NFKB2 gene is associated with autosomal dominant common variable immunodeficiency (MedGen UID: 816321).

Synonym(s): IKBA; MAD-3; NFKBI

The NFKBIA gene is associated with autosomal dominant anhidrotic ectodermal dysplasia with T-cell immunodeficiency (EDA-ID) (MedGen UID: 394295).

Synonym(s): XLF

The NHEJ1 gene is associated with autosomal recessive severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation (MedGen UID: 369590).

Synonym(s): DKCB2; NHP2P; NOLA2

The NHP2 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 462791).

Synonym(s): AIFEC; CARD12; CLAN; CLAN1; CLANA; CLANB; CLANC; CLAND; CLR2.1; FCAS4; IPAF

The NLRC4 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (FCAS) (MedGen UID: 808206). Additionally, the gene has preliminary evidence supporting an association with autosomal dominant autoinflammation with infantile entercolitis (PMID: 25217960).

Synonym(s): CLR19.3; FCAS2; NALP12; PAN6; PYPAF7; RNO; RNO2

The NLRP12 gene is associated with autosomal dominant familial cold autoinflammatory syndrome 2 (MedGen UID 435869).

Synonym(s): AGTAVPRL; AII; AVP; C1orf7; CIAS1; CLR1.1; FCAS; FCAS1; FCU; MWS; NALP3; PYPAF1

The NLRP3 gene is associated with autosomal dominant cryopyrin-associated periodic syndrome (MedGen UID: 412215).

Synonym(s): ACUG; BLAU; CARD15; CD; CLR16.3; IBD1; NLRC2; NOD2B; PSORAS1

The NOD2 gene is associated with autosomal dominant Blau syndrome (MedGen UID: 348835). There is also preliminary evidence supporting a correlation with autosomal dominant inflammatory bowel disease type 1 (IBD1) (PMID: 17941079, 11875755).

Synonym(s): DKCB1; NOLA3; NOP10P

The NOP10 gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 341705).

O
Synonym(s): CRACM1; IMD9; ORAT1; TAM2; TMEM142A

The ORAI1 gene is associated with autosomal dominant tubular aggregate myopathy 2 (TAM2) (MedGen UID: 786453) and autosomal recessive ORAI1 deficiency (MedGen UID: 440578).

P
Synonym(s): DAN; DEADENYLATING NUCLEASE; DKCB6; PFBMFT4; POLY(A)-SPECIFIC RIBONUCLEASE

The PARN gene is associated with autosomal recessive dyskeratosis congenita (MedGen UID: 833886), and autosomal dominant telomere-related pulmonary fibrosis and/or bone marrow failure 4 (PFBMFT4) (MedGen UID: 833912).

Synonym(s): AGM1; IMD23; PAGM; PGM 3

The PGM3 gene is associated with autosomal recessive PGM3-congenital disorders of glycosylation (CDG) (MedGen UID: 786092).

Synonym(s): APDS; IMD14; p110D; P110DELTA; PI3K

The PIK3CD gene is associated with autosomal dominant activated phosphoinositide 3-kinase delta (PI3K-delta) syndrome (MedGen UID: 811535).

Synonym(s): AGM7; GRB1; IMD36; p85; p85-ALPHA

The PIK3R1 gene is associated with autosomal dominant SHORT syndrome (MedGen UID: 164212) and autosomal dominant activated PI3K-delta syndrome (PMID: 25133428). Additionally, there is preliminary evidence supporting a correlation with autosomal recessive agammaglobulinemia (PMID: 22351933).

Synonym(s): APLAID; FCAS3; PLC-gamma-2; PLC-IV

The PLCG2 gene is associated with autosomal dominant familial cold autoinflammatory syndrome (MedGen UID: 482544).

Synonym(s): CDG1; CDG1a; CDGS; PMI; PMI1; PMM 2

The PMM2 gene is associated with autosomal recessive PMM2-congenital disorder of glycosylation (CDG-Ia) (MedGen UID 138111).

Synonym(s): HNPCC4; MLH4; PMS2CL; PMSL2

The PMS2 gene is associated with autosomal dominant Lynch syndrome (also called hereditary nonpolyposis colorectal cancer syndrome, or HNPCC) (MedGen UID: 325005) and autosomal recessive constitutional mismatch repair deficiency syndrome (CMMR-D) (MedGen UID: 78553).

PNP
Synonym(s): NP; PRO1837; PUNP

The PNP gene is associated with autosomal recessive purine nucleoside phosphorylase deficiency (MedGen UID: 75653).

The POLE gene is associated with an increased risk for autosomal dominant colonic adenomatous polyps and colon cancer (PMID: 23263490, 26133394, 23585368, 24501277, 24788313). Additionally, the POLE gene has preliminary evidence supporting a correlation with autosomal recessive facial dysmorphism, immunodeficiency, livedo, and short stature (FILS) syndrome (PMID: 23230001, 25948378).

Synonym(s): FLH2; HPLH2; P1; PFN1; PFP

The PRF1 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis 2 (FHL2) (MedGen UID: 400366). There is also preliminary evidence supporting a correlation with non-Hodgkin lymphoma (PMID: 25215106, 23734337, 24390453).

Synonym(s): ALPS3; CVID9; MAY1; nPKC-delta; PKCD

The PRKCD gene is associated with autosomal recessive autoimmune lymphoproliferative syndrome type III (ALPS3) (MedGen UID: 816258).

Synonym(s): DNA-PKcs; DNAPK; DNPK1; HYRC; HYRC1; IMD26; p350; XRCC7

The PRKDC gene is associated with autosomal recessive severe combined immunodeficiency (SCID) with sensitivity to ionizing radiation (MedGen UID: 807347).

Synonym(s): ALDD; D6S216; D6S216E; JMP; LMP7; NKJO; PSMB5i; RING10

The PSMB8 gene is associated with autosomal recessive autoinflammation, lipodystrophy, and dermatosis syndrome (ALDD) (MedGen UID: 376827).

Synonym(s): CD2BP1; CD2BP1L; CD2BP1S; H-PIP; PAPAS; PSTPIP

The PSTPIP1 gene is associated with autosomal dominant pyogenic sterile arthritis, pyoderma gangrenosum, acne (PAPA) syndrome (MedGen UID: 346801).

Synonym(s): B220; CD45; CD45R; GP180; L-CA; LCA; LY5; T200

The PTPRC gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 373235).

Q
R
Synonym(s): GS2; HsT18676; RAB27; RAM

The RAB27A gene is associated with autosomal recessive Griscelli syndrome type 2 (GS2) (MedGen UID: 357030).

Synonym(s): EN-7; Gx; HSPC022; p21-Rac2

The RAC2 gene is associated with autosomal dominant neutrophil immunodeficiency syndrome (MedGen UID: 374920) and autosomal recessive common variable immunodeficiency (PMID: 25512081).

Synonym(s): RAG-1; RNF74

The RAG1 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 321935). Additionally, the RAG1 gene has preliminary evidence supporting a correlation with autosomal recessive destructive midline granulomatous disease (MedGen UID: 435945).

Synonym(s): RAG-2

The RAG2 gene is associated with autosomal recessive severe combined immunodeficiency (MedGen UID: 321935). Additionally, the RAG2 gene has preliminary evidence supporting a correlation with autosomal recessive combined cellular and humoral immunodeficiency with granulomatous disease (MedGen UID: 435945).

Synonym(s): C20orf18; HOIL-1; HOIL1; PBMEI; PGBM1; RBCK2; RNF54; UBCE7IP3; XAP3; XAP4; ZRANB4

The RBCK1 gene is associated with autosomal recessive polyglucosan body myopathy 1 with or without immunodeficiency (PGBM1) (MedGen UID: 797261).

The RFX5 gene is associated with autosomal recessive hereditary major histocompatibility complex class II deficiency (MHCII), also known as bare lymphocyte syndrome (BLS), type II (MedGen UID: 69211).

Synonym(s): ANKRA1; BLS; F14150_1; RFX-B

The RFXANK gene is associated with autosomal recessive major histocompatibility complex class II (MHCII), also known as bare lymphocyte syndrome, type II (MedGen UID: 69211).

The RFXAP gene is associated with autosomal recessive hereditary major histocompatibility complex class II deficiency (MHCII), also known as bare lymphocyte syndrome (BLS), type II (MedGen UID: 69211).

Synonym(s): ARHH; TTF

The RHOH gene is associated with autosomal recessive T-cell immunodeficiency with epidermodysplasia verruciformis (PMID: 22850876).

Synonym(s): CHH; NME1; RMRPR; RRP2

The RMRP gene is associated with autosomal recessive cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders (MedGen UID: 375972).

Synonym(s): AGS4; JUNB; RNASEHI; RNHIA; RNHL

The RNASEH2A gene is associated with autosomal recessive Aicardi Goutieres syndrome 4 (AGS4) (MedGen UID: 332084).

Synonym(s): AGS2; DLEU8

The RNASEH2B gene is associated with autosomal recessive Aicardi Goutieres syndrome 2 (AGS2) (MedGen UID: 483677).

Synonym(s): AGS3; AYP1

The RNASEH2C gene is associated with autosomal recessive Aicardi Goutieres syndrome 3 (AGS3) (MedGen UID: 324389).

Synonym(s): IMD42; NR1F3; RORG; RZR-GAMMA; RZRG; TOR

The RORC gene is associated with autosomal recessive chronic mucocutaneous candidiasis (PMID: 26160376).

Synonym(s): C20orf41; DKCA4; DKCB5; NHL; PFBMFT3; RTEL

The RTEL1 gene is associated with autosomal recessive dyskeratosis congenita (DKC) (MedGen UID: 767570) and autosomal dominant pulmonary fibrosis (MedGen UID: 833917).

S
Synonym(s): CHBL2; DCIP; HDDC1; MOP-5; SBBI88

The SAMHD1 gene is associated with autosomal recessive Aicardi-Goutieres syndrome 5 (AGS5) (MedGen UID 413116).

Synonym(s): coll-5; M-SEMAH; M-SemaK; SEMAH

The SEMA3E gene has limited evidence supporting a correlation with autosomal dominant CHARGE syndrome (MedGen UID: 75567).

Synonym(s): DSHP; EBVS; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; XLP; XLPD; XLPD1

The SH2D1A gene is associated with X-linked recessive lymphoproliferative syndrome 1 (XLP1) (MedGen UID: 358381).

Synonym(s): 3BP-2; 3BP2; CRBM; CRPM; RES4-23

The SH3BP2 gene is associated with autosomal dominant cherubism (MedGen UID: 40219).

Synonym(s): ENT3; HCLAP; HJCD; PHID

The SLC29A3 is associated with autosomal recessive histiocytosis-lymphadenopathy plus syndrome (MedGen UID: 400532)

Synonym(s): CDG2C; FUCT1

SLC35C1 is associated with autosomal recessive SLC35C1-congenital disorder of glycosylation (CDG-IIc) (MedGen UID 162913).

Synonym(s): G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; PRO0685; TRG-19; TRG19

The SLC37A4 gene is associated with autosomal recessive glycogen storage disease type 1b (GSD1b) (MedGen UID: 78644).

Synonym(s): LAT3; LPI; MOP-2; y+LAT-1; Y+LAT1

The SLC7A7 gene is associated with autosomal recessive lysinuric protein intolerance (LPI) (MedGen UID: 75704).

Synonym(s): HARP; HHARP

The SMARCAL1 gene is associated with autosomal recessive Schimke immunoosseous dysplasia (SIOD) (MedGen UID: 164078).

Synonym(s): IFI41; IFI75; IPR1; VODI

The SP110 gene is associated with autosomal recessive hepatic venoocclusive disease with immunodeficiency (VODI) (MedGen UID: 344659).

Synonym(s): LEKTI; LETKI; NETS; NS; VAKTI

The SPINK5 gene is associated with Netherton syndrome (MedGen UID: 78578).

Synonym(s): CANDF7; IMD31A; IMD31B; IMD31C; ISGF-3; STAT91

The STAT1 gene is associated with autosomal recessive STAT1 deficiency (MedGen UID: 462438), autosomal dominant Mendelian susceptibility to mycobacterial disease (MedGen UID: 807414), and autosomal dominant chronic mucocutaneous candidiasis (MedGen UID: 481620).

Synonym(s): IMD44; ISGF-3; P113; STAT113

The STAT2 gene is associated with autosomal recessive STAT2 deficiency (MedGen UID: 851870).

Synonym(s): ADMIO; ADMIO1; APRF; HIES

The STAT3 gene is associated with autosomal dominant Hyper-IgE syndrome (MedGen UID 831161) and autosomal dominant infantile-onset multisystem autoimmune disease due to STAT3 gain of function (MedGen UID 799886).

Synonym(s): STAT5

The STAT5B gene is associated with autosomal recessive growth hormone insensitivity with immunodeficiency (MedGen UID 343379).

Synonym(s): D11S4896E; GOK; IMD10; STRMK; TAM; TAM1

The STIM1 gene is associated with autosomal dominant tubular aggregate myopathy 1 (TAM1) (MedGen UID: 98050), autosomal dominant Stormorken (STRMK) syndrome (MedGen UID: 350028) and autosomal recessive STIM1 deficiency (MedGen UID: 440575).

Synonym(s): KRS2; MST1; YSK3

The STK4 gene is associated with autosomal recessive combined immunodeficiency due to MST1 deficiency (MedGen UID: 766857).

Synonym(s): FHL4; HLH4; HPLH4

The STX11 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis type 4 (FHL4) (MedGen UID: 350245).

Synonym(s): FHL5; Hunc18b; MUNC18-2; pp10122; UNC18-2; UNC18B

The STXBP2 gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis 5 (FHL5) (MedGen UID: 416514).

T
Synonym(s): ABC17; ABCB2; APT1; D6S114E; PSF-1; PSF1; RING4; TAP1*0102N; TAP1N

The TAP1 gene is associated with autosomal recessive hereditary major histocompatibility complex class I deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (MedGen UID: 346868).

Synonym(s): ABC18; ABCB3; APT2; D6S217E; PSF-2; PSF2; RING11

The TAP2 gene is associated with autosomal recessive hereditary major histocompatibility complex class I deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (MedGen UID: 346868).

Synonym(s): NGS17; TAPA; TPN; TPSN

The TAPBP gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive hereditary major histocompatibility complex class II deficiency (MHCI), also known as bare lymphocyte syndrome (BLS), type I (PMID: 12149238).

TAZ
Synonym(s): Barth syndrome; BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; Taz1

The TAZ gene is associated with X-linked Barth Syndrome (BTHS), also known as 3-methylglutaconic aciduria type II (MedGen UID: 107893), and dilated cardiomyopathy (DCM) (MedGen UID: 2880).

Synonym(s): FTDALS4; NAK; T2K

The TBK1 gene is associated with autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) (MedGen UID: 850725).

Synonym(s): CAFS; CATCH22; CTHM; DGCR; DGS; DORV; TBX1C; TGA; VCF; VCFS

The TBX1 gene is associated with autosomal dominant DiGeorge/Velocardiofacial syndrome (MedGen UID: 4297), and is one of the commonly deleted genes in the recurrent 22q11.2 microdeletion.

Synonym(s): D22S676; D22S750; II; TC; TC II; TC-2; TC2; TCII

The TCN2 gene is associated with autosomal recessive transcobalamin II deficiency (MedGen UID: 137976).

Synonym(s): DKCA1; hTR; PFBMFT2; SCARNA19; TR; TRC3

The TERC gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 338831).

Synonym(s): CMM9; DKCA2; DKCB4; EST2; hEST2; hTRT; PFBMFT1; TCS1; TP2; TRT

The TERT gene is associated with both autosomal recessive and autosomal dominant dyskeratosis congenita (MedGen UID: 462793), and autosomal dominant idiopathic pulmonary fibrosis (IPF) (MedGen UID: 321462).

Synonym(s): IIAE6; MyD88-3; PRVTIRB; TICAM-1; TRIF

The TICAM1 gene (also known as TRIF) is associated with susceptibility to autosomal recessive susceptibility to herpes simplex encephalitis (MedGen UID: 766783). Autosomal dominant inheritance has also been suggested but has not been definitively proven (PMID: 22105173).

Synonym(s): DKCA3; TIN2

The TINF2 gene is associated with autosomal dominant dyskeratosis congenita (MedGen UID: 462795).

Synonym(s): CD283; IIAE2

The TLR3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with susceptability to herpes simplex encephalitis (PMID: 21911422, 25339207, 26513235).

Synonym(s): EV1; EVER1; EVIN1; LAK-4P

The TMC6 gene is associated with autosomal recessive epidermodysplasia verruciformis (EV) (MedGen UID: 41831).

Synonym(s): EV2; EVER2; EVIN2

The TMC8 gene is associated with autosomal recessive epidermodysplasia verruciformis (EV) (MedGen UID: 41831).

Synonym(s): ERIS; hMITA; hSTING; MITA; MPYS; NET23; SAVI; STING

The TMEM173 gene is associated with autosomal dominant infantile-onset STING-associated vasculopathy (SAVI) (MedGen UID: 799834).

Synonym(s): CD267; CVID; CVID2; IGAD2; RYZN; TACI; TNFRSF14B

The TNFRSF13B gene is associated with common variable immunodeficiency (MedGen UID: 461704).

Synonym(s): BAFF-R; BAFFR; BROMIX; CD268; CVID4; prolixin

The TNFRSF13C gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive common variable immunodeficiency, type 4 (CVID4) (MedGen UID: 462089; PMID: 19666484).

Synonym(s): CD120a; FPF; MS5; p55; p55-R; p60; TBP1; TNF-R; TNF-R-I; TNF-R55; TNFAR; TNFR1; TNFR1-d2; TNFR55; TNFR60

The TNFRSF1A gene is associated with autosomal dominant tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (MedGen UID: 226899).

Synonym(s): ACT35; CD134; IMD16; OX40; TXGP1L

The TNFRSF4 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive combined immunodeficiency (PMID: 23897980).

Synonym(s): APO3L; DR3LG; TNLG4A; TWEAK

The TNFSF12 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant common variable immunodeficiency (PMID: 23493554).

Synonym(s): TPP-2; TPP-II; TPPII

The TPP2 gene is associated with autosomal recessive Evans syndrome, immunodeficiency, and premature immunosenescence (PMID: 25414442).

Synonym(s): CAP-1; CAP1; CD40bp; CRAF1; IIAE5; LAP1

The TRAF3 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal dominant susceptibility to herpes simplex encephalitis 3 (PMID: 20832341; MedGen UID: 766782).

Synonym(s): ACT1; C6orf2; C6orf4; C6orf5; C6orf6; CANDF8; CIKS; PSORS13

The TRAF3IP2 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive chronic mucocutaneous candidiasis (PMID: 24120361) and psoriasis susceptibility (PMID: 20953188).

Synonym(s): AGS1; CRV; DRN3; HERNS

The TREX1 gene is associated with autosomal recessive (and possibly autosomal dominant) Aicardi-Goutieres syndrome 1 (AGS1) (MedGen ID: 162912), autosomal dominant familial chilblain lupus (CHBL1) (MedGen UID: 479249), and autosomal dominant retinal vasculopathy with cerebral leukodystrophy (RVCL) (MedGen UID: 348124). In addition, the TREX1 has preliminary evidence supporting a correlation with autosomal dominant susceptibility to systemic lupus erythematosus (SLE) (MedGen UID: 6146; PMID: 17660818).

Synonym(s): CCA1; CGI-47; MtCCA; RPEM; SIFD

The TRNT1 gene is associated with autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) (MedGen UID: 808049).

Synonym(s): GIDID; MINAT; TTC7

The TTC7A gene is associated with autosomal recessive multiple intestinal atresia with combined immune deficiency (MedGen UID: 65090).

Synonym(s): IMD35; JTK1

The TYK2 gene is associated with autosomal recessive Mendelian susceptibility to mycobacterial disease (MedGen UID: 409751).

U
Synonym(s): FHL3; HLH3; HPLH3; Munc13-4

The UNC13D gene is associated with autosomal recessive familial hemophagocytic lymphohistiocytosis 3 (FHL3) (MedGen UID: 332383).

Synonym(s): IIAE1; Unc-93B1; UNC93; UNC93B

The UNC93B1 gene is associated with autosomal recessive susceptibility to herpes simplex encephalitis (MedGen UID: 413772).

UNG
Synonym(s): DGU; HIGM4; HIGM5; UDG; UNG1; UNG15; UNG2

The UNG gene is associated with autosomal recessive Hyper IgM syndrome type 5 (HIGM5) (MedGen UID: 328420).

V
Synonym(s): CHS1; COH1

The VPS13B gene is associated with autosomal recessive Cohen syndrome (MedGen UID: 78539).

Synonym(s): H1; H1VPS45; SCN5; VPS45A; VPS45B; VPS54A; VSP45; VSP45A

The VPS45 gene is associated with autosomal recessive severe congenital neutropenia (MedGen UID: 815361).

W
WAS
Synonym(s): IMD2; SCNX; THC; THC1; WASP; WASPA

The WAS gene is associated with X-linked recessive Wiskott-Aldrich syndrome (MedGen UID: 21921), severe congenital neutropenia (MedGen UID: 335314) and thrombocytopenia (MedGen UID: 326416).

Synonym(s): PRPL-2; WAS2; WASPIP; WIP

The WIPF1 gene currently has no well-established disease association; however, there is preliminary evidence supporting a correlation with autosomal recessive Wiskott-Aldrich syndrome 2 (WAS2) (MedGen UID: 482631; PMID: 22231303).

X
Synonym(s): API3; BIRC4; hIAP-3; hIAP3; IAP-3; ILP1; MIHA; XLP2

The XIAP gene is associated with X-linked lymphoproliferative syndrome 2 (XLP2) (MedGen UID: 336848).

Y
Z
Synonym(s): ADMIO2; IMD48; SRK; STCD; STD; TZK; ZAP-70

The ZAP70 gene is associated with autosomal recessive severe combined immunodeficiency (SCID) (MedGen UID: 376544).

Synonym(s): BIF1; ICF2; PATZ2; ZNF450

The ZBTB24 gene is associated with autosomal recessive immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome (MedGen UID: 481378).