Search Ontology:
Human Disease
janus kinase-3 deficiency
- Term ID
- DOID:0060008
- 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 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| JAK3 | Severe combined immunodeficiency, autosomal recessive, T-negative/B-positive type | janus kinase-3 deficiency | 600802 |
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