New gene defects
Gene defect | Publication | Link | Added on |
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 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 | 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) | 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 | 14.08.2021 | |
RGS10 | Short stature and combined immunodeficiency associated with mutations in RGS10 | 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 | 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 | 29.03.2021 | |
MCM10 | Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening | 12.03.2021 |