Zu den Inhalten springen

Neue Gendefekte

Gene defect

Publication

Link

Added on

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

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