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Gene defect

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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