Centrum für Chronische Immundefizienz - CCI

Gene defect

Publication

Link

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

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/