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) | 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 | 14.08.2021 | |
RGS10 | Short stature and combined immunodeficiency associated with mutations in RGS10 | 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 | 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 | 29.03.2021 | |
MCM10 | Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening | 12.03.2021 |