New gene defects
| Gene defect | Publication | Link | Added on |
| PTPN1 | Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series | pubmed.ncbi.nlm.nih.gov/39986310/ | 13.03.2025 |
| Oncostatin M | Human Oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome |
| 03.02.2025 |
| PSMB10 deficiency | Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome | https://pubmed.ncbi.nlm.nih.gov/38503300/
| 23.12.2024 |
| DBR1 deficiency | Human DBR1 deficiency impairs stress granule-dependent PKR antiviral immunity | https://pubmed.ncbi.nlm.nih.gov/39636299/ | 09.12.2024 |
| IL 7 deficiency | IL-7–dependent and –independent lineages of IL-7R–dependent human T cells | https://www.jci.org/articles/view/180251?utm_source=notices&utm_medium=email&utm_content=link&utm_campaign=JCI+-+October+1%2C+2024%2C+issue+published | 02.10.2024 |
| GNAI2 deficiency | Germline mutations in a G protein identify signaling cross-talk in T cells | https://pubmed.ncbi.nlm.nih.gov/39298586/ | 23.09.2024 |
| RAP1B | Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency | https://www.jci.org/articles/view/169994?utm_source=notices&utm_medium=email&utm_content=link&utm_campaign=JCI+-+September+3%2C+2024%2C+issue+published | 09.09.2024 |
| TNF | Tuberculosis in otherwise healthy adults with inherited TNF deficiency | https://pubmed.ncbi.nlm.nih.gov/39198650/ | 09.09.2024 |
| RelB | Inherited human RelB deficiency impairs innate and adaptive immunity to infection | https://pubmed.ncbi.nlm.nih.gov/39231201/ | 09.09.2024 |
| TMEFF1 | Human TMEFF1 is a restriction factor for herpes simplex virus in the brain | https://pubmed.ncbi.nlm.nih.gov/39048830/ | 29.07.2024 |
| JAK1 | Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis | https://pubmed.ncbi.nlm.nih.gov/38563820/ | 29.07.2024 |
| PTPN2 deficiency | Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus | https://pubmed.ncbi.nlm.nih.gov/39028869/ | 29.07.2024 |
| NUDCD3 deficiency | NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome | https://pubmed.ncbi.nlm.nih.gov/38787962/ | 29.07.2024 |
| PSMB10 deficienc | Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome | https://pubmed.ncbi.nlm.nih.gov/38503300/ | 29.07.2024 |
| FLT3L deficiency | FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice | https://pubmed.ncbi.nlm.nih.gov/38701783/ | 29.07.2024 |
| TKFC | Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency | https://pubmed.ncbi.nlm.nih.gov/38697782/ | 29.07.2024 |
| Pre-TCRalpha deficiency | The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants | https://pubmed.ncbi.nlm.nih.gov/38422122/ | 29.07.2024 |
| PD-L1 | Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency | https://pubmed.ncbi.nlm.nih.gov/38634869/ | 19.04.2024 |
| SHARPIN | Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency | https://pubmed.ncbi.nlm.nih.gov/38609546/ | 19.04.2024 |
| CD4 | Helper T cell immunity in humans with inherited CD4 deficiency | https://pubmed.ncbi.nlm.nih.gov/38557723/ | 05.04.2024 |
| PSMB10 | Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome | https://pubmed.ncbi.nlm.nih.gov/38503300/ | 27.03.2024 |
| IL-27 | Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiency | https://pubmed.ncbi.nlm.nih.gov/38509369/ | 27.03.2024 |
| TNFSF9 | Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EBV+ smooth muscle tumors | https://pubmed.ncbi.nlm.nih.gov/35657354/ | 09.01.2024 |
| GTF3A | GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141 | https://pubmed.ncbi.nlm.nih.gov/36399538/ | 09.01.2024 |
| iRHOM2 | Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease | https://pubmed.ncbi.nlm.nih.gov/34937930/ | 09.01.2024 |
| KARS1 | Antibody Deficiency in Patients with Biallelic KARS1 Mutations | https://pubmed.ncbi.nlm.nih.gov/37770806/ | 09.01.2024 |
| IL1R1 | Potential drug targets for asthma identified in the plasma and brain through Mendelian randomization analysis | https://pubmed.ncbi.nlm.nih.gov/37809092/ | 09.01.2024 |
| MCTS1 | Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria | https://pubmed.ncbi.nlm.nih.gov/37875108/ | 09.01.2024 |
| LY96 | Human MD2 deficiency-an inborn error of immunity with pleiotropic features | https://pubmed.ncbi.nlm.nih.gov/36462957/ | 09.01.2024 |
| PAX5 | Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder | https://pubmed.ncbi.nlm.nih.gov/35947077/ | 09.01.2024 |
| POLD3 | POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment | https://pubmed.ncbi.nlm.nih.gov/37030525/ | 09.01.2024 |
| RNF213 | RNF213-associated urticarial lesions with hypercytokinemia | https://pubmed.ncbi.nlm.nih.gov/35780935/ | 09.01.2024 |
| RNH1 | Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | https://pubmed.ncbi.nlm.nih.gov/37191094/ | 09.01.2024 |
| TLR4 | Biallelic TLR4 deficiency in humans | https://pubmed.ncbi.nlm.nih.gov/36462956/ | 09.01.2024 |
| CCR2 | Human inherited CCR2 deficiency underlies progressive polycystic lung disease | https://pubmed.ncbi.nlm.nih.gov/38157855/ | 09.01.2024 |
| AIOLOS | Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains | https://pubmed.ncbi.nlm.nih.gov/38015619/ | 28.11.2023 |
| NFATC1 | Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis | https://pubmed.ncbi.nlm.nih.gov/37249233/ | 04.09.2023 |
| PMVK | Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases | https://pubmed.ncbi.nlm.nih.gov/37364720/ | 22.07.2023 |
| SLC19A1 | Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier | https://pubmed.ncbi.nlm.nih.gov/36745868/ | 11.07.2023 |
| ARPC5 | Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling | https://pubmed.ncbi.nlm.nih.gov/37349293/ | 27.06.2023 |
| DOCK11 | Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency | https://pubmed.ncbi.nlm.nih.gov/37342957/ | 27.06.2023 |
| ezrin | Inherited human ezrin deficiency impairs adaptive immunity | https://pubmed.ncbi.nlm.nih.gov/37301410/ | 21.06.2023 |
| RELA | Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity | https://pubmed.ncbi.nlm.nih.gov/37273177/ | 21.06.2023 |
| STAT4 | Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome | https://pubmed.ncbi.nlm.nih.gov/37256972/ | 21.06.2023 |
| RIPK3 | Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency | https://pubmed.ncbi.nlm.nih.gov/37083451/ | 24.04.2023 |
| DOCK11 | DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity | https://pubmed.ncbi.nlm.nih.gov/36952639/ | 24.03.2023 |
| Lyn GOF | Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome | https://pubmed.ncbi.nlm.nih.gov/36932076/ | 23.03.2023 |
| STAT6 | Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease | https://pubmed.ncbi.nlm.nih.gov/36884218/ | 14.03.2023 |
| DBF4 | Homozygous DBF4 mutation as a cause for severe congenital neutropenia | https://pubmed.ncbi.nlm.nih.gov/36841265/ | 06.03.2023 |
| IL-23 | Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria | https://pubmed.ncbi.nlm.nih.gov/36763636/ | 06.03.2023 |
| SLC19A1 | Novel immunodeficiency caused by homozygous mutation in SLC19A1 encoding the reduced folate carrier | https://pubmed.ncbi.nlm.nih.gov/36745868/ | 15.02.2023 |
| IRF1 | Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria | https://pubmed.ncbi.nlm.nih.gov/36736301/ | 08.02.2023 |
| IRF4 | A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency | https://pubmed.ncbi.nlm.nih.gov/36917008/ | 23.03.2023 |
| IRF4 | A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency | https://pubmed.ncbi.nlm.nih.gov/36662884/ | 27.01.2023 |
| IP3 | Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defects | https://pubmed.ncbi.nlm.nih.gov/36302985/ | 31.10.2022 |
| NFAT1 | Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy | https://pubmed.ncbi.nlm.nih.gov/35789258/ | 31.10.2022 |
| CBLB | Immune dysregulation caused by homozygous mutations in CBLB | https://pubmed.ncbi.nlm.nih.gov/36006710/ | 19.10.2022 |
| TRAF3 | Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations | https://pubmed.ncbi.nlm.nih.gov/35960817/ | 23.09.2022 |
| FOXI3 | FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia | https://pubmed.ncbi.nlm.nih.gov/35987349/ | 23.09.2022 |
| CBL-B | Immune dysregulation caused by homozygous mutations in CBLB | https://pubmed.ncbi.nlm.nih.gov/36006710/ | 23.09.2022 |
| DPP9 | DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling | https://pubmed.ncbi.nlm.nih.gov/36112693/ | 23.09.2022 |
| IL-33 GOF | A chromosomal duplication encompassing IL-33 causes a novel Hyper IgE phenotype characterized by eosinophilic esophagitis and generalized autoimmunity | https://pubmed.ncbi.nlm.nih.gov/35489436/ | 01.06.2022 |
| IKZF1 GOF | Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation | https://pubmed.ncbi.nlm.nih.gov/35333544/ | 01.04.2022 |
| NEMO | Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype | https://pubmed.ncbi.nlm.nih.gov/35289316/ | 18.03.2022 |
| Apollo | Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects | https://pubmed.ncbi.nlm.nih.gov/35007328/ | 14.01.2022 |
| AIOLOS | T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients | https://pubmed.ncbi.nlm.nih.gov/34694366/ | 03.01.2022 |
| IKZF2 | Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells | https://pubmed.ncbi.nlm.nih.gov/34826260/ | 02.01.2022 |
| iRHOM2 | Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease | https://pubmed.ncbi.nlm.nih.gov/34937930 | 02.01.2022 |
| CRACR2A | Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder | https://pubmed.ncbi.nlm.nih.gov/34908525/ | 15.12.2021 |
| PD-1 | Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child | https://pubmed.ncbi.nlm.nih.gov/34183838/ | 27.09.2021 |
| SASH3 | SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation | https://pubmed.ncbi.nlm.nih.gov/33876203/ | 23.09.2021 |
| ELF4 | Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation | https://pubmed.ncbi.nlm.nih.gov/34326534/ | 22.09.2021 |
| IKKα | Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor kB kinase alpha (IKKα) | https://pubmed.ncbi.nlm.nih.gov/34533979/ | 17.09.2021 |
| c-Rel | Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents | https://pubmed.ncbi.nlm.nih.gov/34623332/ | 01.09.2021 |
| DIAPH1 | Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction | https://pubmed.ncbi.nlm.nih.gov/33662367/ | 14.08.2021 |
| RGS10 | Short stature and combined immunodeficiency associated with mutations in RGS10 | https://pubmed.ncbi.nlm.nih.gov/34315806 | 27.07.2021 |
| MR1 | Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1 | https://pubmed.ncbi.nlm.nih.gov/32709702/ | 24.07.2021 |
| CD28 | Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy | https://pubmed.ncbi.nlm.nih.gov/34214472/ | 08.07.2021 |
| PU.1 | Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients | https://pubmed.ncbi.nlm.nih.gov/33951726/ | 05.07.2021 |
| TLR8 | Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function | https://pubmed.ncbi.nlm.nih.gov/33512449/ | 06.05.2021 |
| GIMAP6 | A human case of GIMAP6 deficiency: a novel primary immune deficiency | https://pubmed.ncbi.nlm.nih.gov/33328581/ | 29.04.2021 |
| RhoG | RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis | https://pubmed.ncbi.nlm.nih.gov/33513601/ | 15.04.2021 |
| SYK | Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice | https://pubmed.ncbi.nlm.nih.gov/33782605/ | 29.03.2021 |
| MCM10 | Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening | https://pubmed.ncbi.nlm.nih.gov/33712616/ | 12.03.2021 |