Centrum für Chronische Immundefizienz - CCI

Gene defect

Publication

Link

NFATC1

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis

Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases

Novel immunodeficiency caused by homozygous mutation in solute carrier family 19 member 1, which encodes the reduced folate carrier

ARPC5

Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

DOCK11

Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency

ezrin

Inherited human ezrin deficiency impairs adaptive immunity

RELA

Human RELA dominant-negative mutations underlie type I interferonopathy with autoinflammation and autoimmunity

STAT4

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

Encephalitis and poor neuronal death-mediated control of herpes simplex virus in human inherited RIPK3 deficiency

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

STAT6

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

DBF4 

Homozygous DBF4 mutation as a cause for severe congenital neutropenia

IL-23

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria

SLC19A1

Novel immunodeficiency caused by homozygous mutation in SLC19A1 encoding the reduced folate carrier

IRF1

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

A neomorphic mutation in the interferon activation domain of IRF4 causes a dominant primary immunodeficiency

IRF4

A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency

IP₃

Disrupted Ca²⁺ homeostasis and immunodeficiency in patients with functional IP₃ receptor subtype 3 defects

NFAT1

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy

CBLB

Immune dysregulation caused by homozygous mutations in CBLB

TRAF3

Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations

FOXI3

FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia

CBL-B

Immune dysregulation caused by homozygous mutations in CBLB

DPP9

DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling

IL-33 GOF

A chromosomal duplication encompassing IL-33 causes a novel Hyper IgE phenotype characterized by eosinophilic esophagitis and generalized autoimmunity

IKZF1 GOF

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation

NEMO

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

Apollo 

Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects

AIOLOS

T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients

IKZF2

Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells

iRHOM2

Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease

CRACR2A

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder

https://pubmed.ncbi.nlm.nih.gov/34908525/ 

PD-1

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

SASH3

SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

ELF4

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation

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/

c-Rel 

Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents

DIAPH1

Loss of DIAPH1 causes SCBMS, combined immunodeficiency, and mitochondrial dysfunction

https://pubmed.ncbi.nlm.nih.gov/33662367/

RGS10

Short stature and combined immunodeficiency associated with mutations in RGS10

https://pubmed.ncbi.nlm.nih.gov/34315806

MR1

Absence of mucosal-associated invariant T cells in a person with a homozygous point mutation in MR1

CD28

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

PU.1

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

https://pubmed.ncbi.nlm.nih.gov/33951726/

TLR8

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function

GIMAP6

A human case of GIMAP6 deficiency: a novel primary immune deficiency

RhoG

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

SYK

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice

https://pubmed.ncbi.nlm.nih.gov/33782605/

MCM10

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

https://pubmed.ncbi.nlm.nih.gov/33712616/