Term Name: janus kinase-3 deficiency
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 )

Relationships
is a type of: severe combined immunodeficiency