OBO ID: DOID:0060008
Term Name: janus kinase-3 deficiency Search Ontology:
Synonyms:
Definition: A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance
References:
Ontology: Human Disease   ( DOID:0060008 )
Relationships
is a type of:
OTHER janus kinase-3 deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
JAK3 SCID, autosomal recessive, T-negative/B-positive type 600802
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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