primary immunodeficiency disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (Human Disease Ontology, DOID_612)
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Genes

34 genes involed in the disease primary immunodeficiency disease from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ADA adenosine deaminase
BTK Bruton agammaglobulinemia tyrosine kinase
CD19 CD19 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD40LG CD40 ligand
CD81 CD81 molecule
CFI complement factor I
CIITA class II, major histocompatibility complex, transactivator
CR2 complement component (3d/Epstein Barr virus) receptor 2
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
ICOS inducible T-cell co-stimulator
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
JAK3 Janus kinase 3
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
NCF1 neutrophil cytosolic factor 1
NCF1C neutrophil cytosolic factor 1C pseudogene
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
PNP purine nucleoside phosphorylase
PRKCD protein kinase C, delta
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa