Term Name: | janus kinase-3 deficiency |
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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. |
Ontology: | Human Disease [DOID:0060008] ( DOID:0060008 ) |