Version May 2024
| Disease | Genetic defect | Inheritance | OMIM | T cells | B cells | Immunoglobulin | Associated features |
| T-B+ SCID | |||||||
| Gamma-c deficiency (common gamma chain SCID, CD132 deficiency) | IL-2 receptor subunit gamma (IL2RG) | XL | 308380 | Very low | Normal to high | Low | Low NK |
| JAK3 deficiency | Janus kinase 3 (JAK3) | AR | 600173 | Very low | Normal to high | Low | Low NK |
| IL7R-alpha deficiency | IL-7 receptor (IL7R) | AR | 146661 | Very low | Normal to high | Low | Normal NK |
| CD45 deficiency | Protein tyrosine phosphatase receptor type C (PTPRC) | AR | 151460 | Very low | Normal | Low | Normal gamma/delta T cells |
| CD3 delta deficiency | CD3 delta subunit of TCR complex (CD3D) | AR | 186790 | Very low | Normal | Low | Normal NK, no gamma/delta T cells |
| CD3 epsilon deficiency | CD3 epsilon subunit of TCR complex (CD3E) | AR | 186830 | Very low | Normal | Low | Normal NK, no gamma/delta T cells |
| CD3 zeta deficiency | CD3 zeta subunit of TCR complex (CD3Z) | AR | 186780 | Very low | Normal | Low | Normal NK, no gamma/delta T cells |
| Coronin-1A deficiency | Coronin 1A (CORO1A) | AR | 605000 | Very low | Normal | Low | Detectable thymus |
| LAT deficiency | Linker for activation of T cells (LAT) | AR | 602354 | Normal to low | Normal to low | High | Typical SCID or CID, the latter with adenopathy, splenomegaly, recurrent infections, autoimmunity |
| SLP76 deficiency | Lymphocyte cytosolic protein 2 (LCP2) | AR | 619374 | Reduced | Normal | High IgM; low IgA | Early-onset skin abscesses, rash, recurrent infections, autoimmunity |
| T-B- SCID | |||||||
| RAG deficiency | Recombination activating 1 (RAG1) | AR | 179615 | Very low | Very low | Decreased | Normal NK cell number but increased risk of graft rejection, possibly due to activated NK cells |
| Recombination activating 2 (RAG2) | AR | 179616 | Very low | Very low | Decreased | Normal NK cell number but increased risk of graft rejection, possibly due to activated NK cells | |
| DCLRE1C (Artemis) deficiency | DNA cross-link repair 1C (DCLRE1C) | AR | 605988 | Very low | Very low | Decreased | Normal NK cell number but increased risk of graft rejection, possibly due to activated NK cells, radiation sensitivity |
| DNA PKcs deficiency | Protein kinase, DNA-activated, catalytic subunit (PRKDC) | AR | 615966 | Very low | Very low | Variable | Normal NK, radiation sensitivity, microcephaly |
| Cernunnos/XLF deficiency | Nonhomologous end joining factor 1 (NHEJ1) | AR | 611290 | Very low | Very low | Decreased | Normal NK, radiation sensitivity, microcephaly |
| DNA ligase IV deficiency | DNA ligase 4 (LIG4) | AR | 601837 | Very low | Very low | Decreased | Normal NK, radiation sensitivity, microcephaly |
| Adenosine deaminase deficiency | Adenosine deaminase (ADA) | AR | 608958 | Very low | Low, decreasing | Low, decreasing | Low NK, bone defects, may have pulmonary alveolar proteinosis, cognitive defects |
| AK2 defect | Adenylate kinase 2 (AK2) | AR | 103020 | Very low | Very low | Decreased | Reticular dysgenesis with neutropenia, deafness |
| Activated RAC2 defect | Rac family small GTPase 2 (RAC2) | AD GOF | 602049 | Very low | Very low | Low; poor specific antibody responses | Recurrent bacterial and viral infections, lymphoproliferation, neutropenia |
| CID, generally less profound than SCID | |||||||
| CD40 ligand (CD154) deficiency | CD40 ligand (CD40LG) | XL | 308230 | Normal to low | sIgM+IgD+ naïve B cells present; IgG+, IgA+, IgE+ memory B cells absent | IgM normal or high; other immunoglobulin isotypes low | Severe and opportunistic infections, idiopathic neutropenia, hepatitis and cholangitis, Cryptosporidium infections, cholangiocarcinoma, autoimmune blood cytopenias, peripheral neuroectodermal tumors |
| CD40 deficiency | CD40 molecule (CD40) | AR | 606843 | Normal | sIgM+IgD+ naïve B cells present; IgG+, IgA+, IgE+ memory B cells absent | IgM normal or high; other immunoglobulin isotypes low | Neutropenia, opportunistic infections, gastrointestinal and biliary tract and liver disease, Cryptosporidium infections |
| ICOS deficiency | Inducible T cell costimulator (ICOS) | AR | 604558 | Normal | Normal | Low | Recurrent infections, autoimmunity, gastroenteritis, granulomas |
| ICOSL deficiency | Inducible T cell costimulator ligand (ICOSLG) | AR | 605717 | Low | Low | Low | Recurrent bacterial and viral infections, neutropenia |
| CD3 gamma deficiency | CD3 gamma subunit of TCR complex (CD3G) | AR | 186740 | Normal number but low TCR expression | Normal | Normal | Immunodeficiency and autoimmunity of variable severity |
| CD8 deficiency | CD8a molecule (CD8A) | AR | 186910 | Absent CD8; normal CD4 | Normal | Normal | Recurrent infections, may be asymptomatic |
| ZAP-70 deficiency (ZAP70 LOF) | Zeta chain of T cell receptor associated protein kinase 70 (ZAP70) | AR | 269840 | Low CD8 number; normal CD4 number but with poor function | Normal | Normal | May have immune dysregulation, autoimmunity |
| ZAP-70 combined hypomorphic and activating mutations | Zeta chain of T cell receptor associated protein kinase 70 (ZAP70) | AR (LOF/GOF) | 617006 | Decreased CD8; normal or decreased CD4 cells | Normal or decreased | Normal IgA, low IgM, low/normal IgG; protective AB responses to vaccines | Severe autoimmunity, bullous pemphigoid, inflammatory colitis |
| MHC class I deficiency | Transporter 1, ATP binding cassette subfamily B member (TAP1) | AR | 170260 | Low CD8; normal CD4; absent MHC I on lymphocytes | Normal | Normal | Vasculitis, pyoderma gangrenosum |
| Transporter 2, ATP binding cassette subfamily B member (TAP2) | AR | 170261 | Low CD8; normal CD4; absent MHC I on lymphocytes | Normal | Normal | Vasculitis, pyoderma gangrenosum | |
| TAP binding protein (TAPBP) | AR | 601962 | Low CD8; normal CD4; absent MHC I on lymphocytes | Normal | Normal | Vasculitis, pyoderma gangrenosum | |
| Beta-2-microglobulin (B2M) | AR | 109700 | Low CD8; normal CD4; absent MHC I on lymphocytes | Normal | Normal | Sinopulmonary infections, cutaneous granulomas, absent B2M-associated proteins MHC-I, CD1a, CD1b, CD1c | |
| MHC class II deficiency group A, B, C, D | Class II MHC transactivator (CIITA) | AR | 600005 | Low CD4+ T cells; reduced MHC II expression on lymphocytes | Normal | Normal to low | Failure to thrive, respiratory and gastrointestinal infections, liver/biliary tract disease |
| Regulatory factor X-associated ankyrin-containing protein (RFXANK) | AR | 603200 | Low CD4+ T cells; reduced MHC II expression on lymphocytes | Normal | Normal to low | Failure to thrive, respiratory and gastrointestinal infections, liver/biliary tract disease | |
| Regulatory factor X5 (RFX5) | AR | 601863 | Low CD4+ T cells; reduced MHC II expression on lymphocytes | Normal | Normal to low | Failure to thrive, respiratory and gastrointestinal infections, liver/biliary tract disease | |
| Regulatory factor X associated protein (RFXAP) | AR | 601861 | Low CD4+ T cells; reduced MHC II expression on lymphocytes | Normal | Normal to low | Failure to thrive, respiratory and gastrointestinal infections, liver/biliary tract disease | |
| IKAROS deficiency | IKAROS family zinc finger 1 (IKZF1) | AD DN | 603023 | No memory T cells | No memory B cells | Low immunoglobulin | Recurrent sinopulmonary infections, pneumocystis, early CID onset |
| DOCK8 deficiency | Dedicator of cytokinesis 8 (DOCK8) | AR | 243700 | T cell lymphopenia; reduced naïve CD8 T cells; increased exhausted CD8+ TEM cells; reduced MAIT, NKT cells; increased gamma-delta T cells; poor proliferation; few Treg with poor function | Increased total B cell; reduced memory B cells; poor peripheral B cell tolerance | Low IgM; normal/high IgG and IgA; very high IgE; poor antibody responses | Low NK cells with poor function; eosinophilia; recurrent infections; cutaneous viral, fungal, and staphylococcal infections; severe atopy/allergic disease; cancer diathesis |
| DOCK2 deficiency | Dedicator of cytokinesis 2 (DOCK2) | AR | 603122 | Low | Normal | IgG normal or low; poor antibody responses | Early invasive herpes vial bacterial infections, normal NK cell number but defective function, poor interferon responses to hematopoietic and nonhematopoietic cells |
| Polymerase delta deficiency | DNA polymerase delta 1, catalytic subunit (POLD1) | AR | 174761 | Low CD4 T cells | Low B cells but normal maturation | Low IgG | Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability |
| DNA polymerase delta 2, accessory subunit (POLD2) | AR | 600815 | Low CD4 T cells | Low B cells but normal maturation | Low IgG | Recurrent respiratory tract infections, skin infections, warts and molluscum, short stature, intellectual disability | |
| RHOH deficiency | Ras homolog family member H (RHOH) | AR | 602037 | Normal; few naïve T cells; restricted repertoire; poor proliferation to CD3 | Normal | Normal | HPV infection, lung granulomas, molluscum contagiosum, lymphoma |
| STK4 deficiency | Serine/threonine kinase 4 (STK4) | AR | 614868 | CD4 lymphopenia; reduced naïve T cells; increased TEM and TEMRA cells; poor proliferation | Reduced memory B cells | Reduced IgM; increased IgG, IgA, and IgE; impaired antibody responses | Intermittent neutropenia; bacterial, viral (HPV, EBV, molluscum), and candidal infections; lymphoproliferation; autoimmune cytopenias; lymphoma; congenital heart disease |
| TCR-alpha deficiency | T cell receptor alpha constant (TRAC) | AR | 615387 | Absent TCR-alpha-beta except for a minor CD3-dim TCR-alpha-beta population; most T cells gamma-delta; poor proliferation | Normal | Normal | Recurrent viral, bacterial, fungal infections; immune dysregulation and autoimmunity; diarrhea |
| LCK deficiency | LCK proto-oncogene, Src family tyrosine kinase (LCK) | AR | 615758 | Low CD4+; low Treg; restricted T cell repertoire; poor TCR signaling | Normal | Normal IgG and IgA; high IgM | Recurrent infections, immune dysregulation, autoimmunity |
| ITK deficiency | IL-2 inducible T cell kinase (ITK) | AR | 186973 | Progressive CD4 T cell lymphopenia; reduced T cell activation | Normal | Normal to low serum immunoglobulin | EBV-associated B cell lymphoproliferation, lymphoma, immune dysregulation |
| MALT1 deficiency | MALT1 paracaspase (MALT1) | AR | 615468 | Normal number; poor proliferation | Normal | Normal levels; poor specific antibody response | Bacterial, fungal and viral infections |
| CARD11 deficiency | Caspase recruitment domain family member 11 (CARD11) | AR LOF | 615206 | Normal number; predominantly naïve T cells; poor proliferation | Normal; transitional B cell predominance | Absent/low | Pneumocystis jirovecii pneumonia, bacterial and viral infections |
| BCL10 deficiency | BCL10 immune signaling adaptor (BCL10) | AR | 616098 | Normal number; few memory T and Treg cels; poor antigen and anti-CD3 proliferation | Normal number; decreased memory and switched B cells | Low | Recurrent bacterial and viral infections, candidiasis, gastroenteritis |
| IL-21 deficiency | Interleukin 21 (IL21) | AR | 615767 | Normal number; normal/low function | Low; decreased memory and switched B cells | Hypogammaglobulinemia; poor specific antibody responses; increased IgE | Severe early-onset colitis, recurrent sinopulmonary infections |
| IL-21R deficiency | Interleukin 21 receptor (IL21R) | AR | 615207 | Normal number; low cytokine production; poor antigen proliferation | Normal; decreased memory and switched B cells | Hypogammaglobulinemia; poor specific antibody responses; increased IgE | Recurrent infections, P. jirovecii, Cryptosporidium infections, liver disease |
| OX40 deficiency | TNF receptor superfamily member 4 (TNFRSF4) | AR | 615593 | Normal number; low antigen-specific memory CD4+ | Normal number; low memory B cells | Normal | Impaired immunity to HHV8, Kaposi sarcoma |
| IKBKB deficiency | Inhibitor of NF-kB kinase subunit beta (IKBKB) | AR | 615592 | Normal number; absent Treg and gamma-delta T cells; impaired TCR activation | Normal number; poor function | Low | Recurrent bacterial, viral, and fungal infections; opportunistic infections |
| NIK deficiency | Mitogen-activated protein kinase kinase kinase 14 (MAP3K14) | AR | 604655 | Normal number; poor proliferation to antigen | Low; low switched memory B cells | Low immunoglobulins | Low NK number and function; recurrent bacterial, viral, and Cryptosporidium infections |
| RelB deficiency | RELB proto-oncogene, NF-kB subunit (RELB) | AR | 604758 | Normal number; poor diversity; reduced proliferation to mitogens; no response to antigen | Marked increased in B cell number | Normal immunoglobulin levels but impaired specific antibody responses | Recurrent infections |
| RelA haploinsufficiency | RELA proto-oncogene, NF-kB subunit (RELA) | AD | 618287 | Normal/increased | Normal | Normal | Chronic mucocutaneous ulceration, impaired NF-kB activation, reduced production of inflammatory cytokines |
| Moesin deficiency | Moesin (MSN) | XL | 300988 | Normal number; defective migration, proliferation | Low number | Low immunoglobulins over time | Recurrent infections with bacteria, varicella, neutropenia |
| TFRC deficiency | Transferrin receptor (TFRC) | AR | 616740 | Normal number; poor proliferation | Normal number; low memory B cells | Low | Recurrent infections, neutropenia, thrombocytopenia |
| c-Rel deficiency | REL proto-oncogene, NF-kB subunit (REL) | AR | 164910 | Normal; decreased memory CD4; poor proliferation | Low, mostly naïve; few switched memory B cells; impaired proliferation | Low; poor specific antibody responses | Recurrent infections with bacterial, mycobacteria, Salmonella, and opportunistic organisms; defective innate immunity |
| FCHO1 deficiency | FCH and mu domain containing endocytic adaptor 1 (FCHO1) | AR | 613437 | Low; poor proliferation | Normal number | Normal | Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, failure to thrive, increased activation-induced T cell death, defective clathrin-mediated endocytosis |
| PAX1 deficiency | Paired box 1 (PAX1) | AR | 615560 | Severe T cell lymphopenia; low TRECs | Normal number | Normal | Omenn-like syndrome (erythroderma, lymphocytosis, eosinophilia, severe/recurrent infections), no thymus, T cell deficiency not corrected by HCT, otofaciocervical syndrome type 2, ear abnormalities |
| ITPKB deficiency | Inositol-trisphosphate 3-kinase B (ITPKB) | AR | Very few T cells | Normal | Normal IgM, IgA; low IgG | Failure to thrive, recurrent bacterial/fungal infections, pan-leukopenia, anemia, thrombocytopenia | |
| SASH3 deficiency | SAM and SH3 domain containing 3 (SASH3) | XL | T/NK cell lymphopenia | B cell lymphopenia | Low; poor specific antibody responses | Recurrent sinopulmonary, cutaneous, and mucosal infections; refractor autoimmune cytopenia/neutropenia | |
| MAN2B2 deficiency | Mannosidase alpha class 2B member 2 (MAN2B2) | AR | Low T cells | Low B cells | Normal/low | Recurrent infections, vasculitis, arthritis, failure to thrive, microcephaly, neurodevelopmental delay, congenital disorder of glycosylation | |
| COPG1 deficiency | COPI coat complex subunit gamma 1 (COPG1) | AR | T cell lymphopenia | Normal | Normal but poor immunoglobulin response to vaccines | Recurrent pneumonia, viral respiratory infections, chronic EBV, CMV viremia, failure to thrive, bronchiectasis | |
| HELIOS deficiency | IKAROS family zinc finger 2 (IKZF2) | AD, AR | Increased activated T cells | Normal number; reduced memory | Reduced | Recurrent upper respiratory infections/pneumonia, thrush, mucosal ulcers, chronic lymphadenopathy, SLE, ITP, AIHA (Evans syndrome), EBV-associated HLH, lymphoma | |
| IKK-alpha deficiency | Component of inhibitor of nuclear factor kappa B kinase complex (CHUK) | AR | Normal | Reduced | Low | Recurrent bacterial, viral, and fungal infections; absent secondary lymphoid tissues; skeletal abnormalities, failure to thrive | |
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