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Gene defectPublicationLinkAdded on
 PTPN1 Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case seriespubmed.ncbi.nlm.nih.gov/39986310/13.03.2025
Oncostatin MHuman Oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome

https://www.jci.org/articles/view/180981?utm_source=notices&utm_medium=email&utm_content=link&utm_campaign=JCI+-+February+3%2C+2025%2C+issue+published

 

03.02.2025
PSMB10 deficiencyExpanding 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 immunityhttps://pubmed.ncbi.nlm.nih.gov/39636299/09.12.2024
IL 7 deficiencyIL-7–dependent and –independent lineages of IL-7R–dependent human T cellshttps://www.jci.org/articles/view/180251?utm_source=notices&utm_medium=email&utm_content=link&utm_campaign=JCI+-+October+1%2C+2024%2C+issue+published02.10.2024
GNAI2 deficiencyGermline mutations in a G protein identify signaling cross-talk in T cellshttps://pubmed.ncbi.nlm.nih.gov/39298586/23.09.2024
RAP1BSomatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiencyhttps://www.jci.org/articles/view/169994?utm_source=notices&utm_medium=email&utm_content=link&utm_campaign=JCI+-+September+3%2C+2024%2C+issue+published09.09.2024
TNFTuberculosis in otherwise healthy adults with inherited TNF deficiencyhttps://pubmed.ncbi.nlm.nih.gov/39198650/09.09.2024
RelBInherited human RelB deficiency impairs innate and adaptive immunity to infectionhttps://pubmed.ncbi.nlm.nih.gov/39231201/09.09.2024
TMEFF1Human TMEFF1 is a restriction factor for herpes simplex virus in the brainhttps://pubmed.ncbi.nlm.nih.gov/39048830/29.07.2024
JAK1Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitishttps://pubmed.ncbi.nlm.nih.gov/38563820/29.07.2024
PTPN2 deficiency Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupushttps://pubmed.ncbi.nlm.nih.gov/39028869/29.07.2024
NUDCD3 deficiencyNUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndromehttps://pubmed.ncbi.nlm.nih.gov/38787962/29.07.2024
PSMB10 deficiencExpanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromehttps://pubmed.ncbi.nlm.nih.gov/38503300/29.07.2024
FLT3L deficiencyFLT3L governs the development of partially overlapping hematopoietic lineages in humans and micehttps://pubmed.ncbi.nlm.nih.gov/38701783/29.07.2024
TKFC Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiencyhttps://pubmed.ncbi.nlm.nih.gov/38697782/29.07.2024
Pre-TCRalpha deficiencyThe immunopathological landscape of human pre-TCRα deficiency: From rare to common variantshttps://pubmed.ncbi.nlm.nih.gov/38422122/29.07.2024
PD-L1Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiencyhttps://pubmed.ncbi.nlm.nih.gov/38634869/19.04.2024
SHARPINBiallelic human SHARPIN loss of function induces autoinflammation and immunodeficiencyhttps://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 syndromehttps://pubmed.ncbi.nlm.nih.gov/38503300/27.03.2024
IL-27Role of IL-27 in Epstein-Barr virus infection revealed by IL-27RA deficiencyhttps://pubmed.ncbi.nlm.nih.gov/38509369/27.03.2024
TNFSF9 Inherited TNFSF9 deficiency causes broad Epstein-Barr virus infection with EBV+ smooth muscle tumorshttps://pubmed.ncbi.nlm.nih.gov/35657354/09.01.2024
GTF3AGTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141https://pubmed.ncbi.nlm.nih.gov/36399538/09.01.2024
iRHOM2Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory diseasehttps://pubmed.ncbi.nlm.nih.gov/34937930/09.01.2024
KARS1 Antibody Deficiency in Patients with Biallelic KARS1 Mutationshttps://pubmed.ncbi.nlm.nih.gov/37770806/09.01.2024
IL1R1Potential drug targets for asthma identified in the plasma and brain through Mendelian randomization analysishttps://pubmed.ncbi.nlm.nih.gov/37809092/09.01.2024
MCTS1 Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteriahttps://pubmed.ncbi.nlm.nih.gov/37875108/09.01.2024
LY96Human MD2 deficiency-an inborn error of immunity with pleiotropic featureshttps://pubmed.ncbi.nlm.nih.gov/36462957/09.01.2024
PAX5 Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorderhttps://pubmed.ncbi.nlm.nih.gov/35947077/09.01.2024
POLD3 POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairmenthttps://pubmed.ncbi.nlm.nih.gov/37030525/09.01.2024
RNF213RNF213-associated urticarial lesions with hypercytokinemiahttps://pubmed.ncbi.nlm.nih.gov/35780935/09.01.2024
RNH1Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathyhttps://pubmed.ncbi.nlm.nih.gov/37191094/09.01.2024
TLR4Biallelic TLR4 deficiency in humanshttps://pubmed.ncbi.nlm.nih.gov/36462956/09.01.2024
CCR2 Human inherited CCR2 deficiency underlies progressive polycystic lung diseasehttps://pubmed.ncbi.nlm.nih.gov/38157855/09.01.2024
AIOLOSDisease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domainshttps://pubmed.ncbi.nlm.nih.gov/38015619/28.11.2023
NFATC1Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysishttps://pubmed.ncbi.nlm.nih.gov/37249233/ 04.09.2023
PMVKPhosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseaseshttps://pubmed.ncbi.nlm.nih.gov/37364720/ 22.07.2023
SLC19A1Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrierhttps://pubmed.ncbi.nlm.nih.gov/36745868/ 11.07.2023
ARPC5Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signalinghttps://pubmed.ncbi.nlm.nih.gov/37349293/ 27.06.2023
DOCK11Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiencyhttps://pubmed.ncbi.nlm.nih.gov/37342957/ 27.06.2023
ezrinInherited human ezrin deficiency impairs adaptive immunityhttps://pubmed.ncbi.nlm.nih.gov/37301410/ 21.06.2023
RELAHuman RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunityhttps://pubmed.ncbi.nlm.nih.gov/37273177/ 21.06.2023
STAT4Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndromehttps://pubmed.ncbi.nlm.nih.gov/37256972/ 21.06.2023
RIPK3Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiencyhttps://pubmed.ncbi.nlm.nih.gov/37083451/24.04.2023
DOCK11DOCK11 deficiency in patients with X-linked actinopathy and autoimmunityhttps://pubmed.ncbi.nlm.nih.gov/36952639/ 24.03.2023
Lyn GOFConstitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndromehttps://pubmed.ncbi.nlm.nih.gov/36932076/ 23.03.2023
STAT6Human germline heterozygous gain-of-function STAT6 variants cause severe allergic diseasehttps://pubmed.ncbi.nlm.nih.gov/36884218/ 14.03.2023
DBF4 Homozygous DBF4 mutation as a cause for severe congenital neutropeniahttps://pubmed.ncbi.nlm.nih.gov/36841265/ 06.03.2023
IL-23Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteriahttps://pubmed.ncbi.nlm.nih.gov/36763636/ 06.03.2023
SLC19A1Novel immunodeficiency caused by homozygous mutation in SLC19A1 encoding the reduced folate carrierhttps://pubmed.ncbi.nlm.nih.gov/36745868/ 15.02.2023
IRF1Human IRF1 governs macrophagic IFN-γ immunity to mycobacteriahttps://pubmed.ncbi.nlm.nih.gov/36736301/08.02.2023
IRF4A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiencyhttps://pubmed.ncbi.nlm.nih.gov/36917008/ 23.03.2023
IRF4A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiencyhttps://pubmed.ncbi.nlm.nih.gov/36662884/ 27.01.2023
IP3Disrupted Ca2+ homeostasis and immunodeficiency in patients with functional IP3 receptor subtype 3 defectshttps://pubmed.ncbi.nlm.nih.gov/36302985/ 31.10.2022
NFAT1Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancyhttps://pubmed.ncbi.nlm.nih.gov/35789258/ 31.10.2022
CBLBImmune dysregulation caused by homozygous mutations in CBLBhttps://pubmed.ncbi.nlm.nih.gov/36006710/ 19.10.2022
TRAF3Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutationshttps://pubmed.ncbi.nlm.nih.gov/35960817/ 23.09.2022
FOXI3FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopeniahttps://pubmed.ncbi.nlm.nih.gov/35987349/ 23.09.2022
CBL-BImmune dysregulation caused by homozygous mutations in CBLBhttps://pubmed.ncbi.nlm.nih.gov/36006710/ 23.09.2022
DPP9DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalinghttps://pubmed.ncbi.nlm.nih.gov/36112693/ 23.09.2022
IL-33 GOFA chromosomal duplication encompassing IL-33 causes a novel Hyper IgE phenotype characterized by eosinophilic esophagitis and generalized autoimmunityhttps://pubmed.ncbi.nlm.nih.gov/35489436/ 01.06.2022
IKZF1 GOFGain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiationhttps://pubmed.ncbi.nlm.nih.gov/35333544/ 01.04.2022
NEMOGenetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotypehttps://pubmed.ncbi.nlm.nih.gov/35289316/ 18.03.2022
Apollo Inherited human Apollo deficiency causes severe bone marrow failure and developmental defectshttps://pubmed.ncbi.nlm.nih.gov/35007328/ 14.01.2022
AIOLOST and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patientshttps://pubmed.ncbi.nlm.nih.gov/34694366/ 03.01.2022
IKZF2Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cellshttps://pubmed.ncbi.nlm.nih.gov/34826260/ 02.01.2022
iRHOM2Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory diseasehttps://pubmed.ncbi.nlm.nih.gov/34937930 02.01.2022
CRACR2ABiallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorderhttps://pubmed.ncbi.nlm.nih.gov/34908525/ 15.12.2021
PD-1Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a childhttps://pubmed.ncbi.nlm.nih.gov/34183838/27.09.2021
SASH3SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulationhttps://pubmed.ncbi.nlm.nih.gov/33876203/23.09.2021
ELF4Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammationhttps://pubmed.ncbi.nlm.nih.gov/34326534/22.09.2021
IKKαCombined 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 agentshttps://pubmed.ncbi.nlm.nih.gov/34623332/01.09.2021
DIAPH1Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunctionhttps://pubmed.ncbi.nlm.nih.gov/33662367/14.08.2021
RGS10Short stature and combined immunodeficiency associated with mutations in RGS10https://pubmed.ncbi.nlm.nih.gov/3431580627.07.2021
MR1Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1https://pubmed.ncbi.nlm.nih.gov/32709702/24.07.2021
CD28Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthyhttps://pubmed.ncbi.nlm.nih.gov/34214472/08.07.2021
PU.1Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patientshttps://pubmed.ncbi.nlm.nih.gov/33951726/05.07.2021
TLR8Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of functionhttps://pubmed.ncbi.nlm.nih.gov/33512449/06.05.2021
GIMAP6A human case of GIMAP6 deficiency: a novel primary immune deficiencyhttps://pubmed.ncbi.nlm.nih.gov/33328581/29.04.2021
RhoGRhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosishttps://pubmed.ncbi.nlm.nih.gov/33513601/15.04.2021
SYKGain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and micehttps://pubmed.ncbi.nlm.nih.gov/33782605/29.03.2021
MCM10Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shorteninghttps://pubmed.ncbi.nlm.nih.gov/33712616/12.03.2021
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