Human genes for janus kinase-3 deficiency
Janus kinase-3 deficiency [DOID:0060008]
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.
Synonyms: janus kinase-3 deficiency, DOID:0060008, janus kinase3 deficiency