FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term janus kinase-3 deficiency ID (Ontology) DOID:0060008 (Human Disease)
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.
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 janus kinase-3 deficiency       1
 for disease ribbon | janus kinase-3 deficiency       1
 model of | janus kinase-3 deficiency       1
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  combined immunodeficiency
   |__severe combined immunodeficiency
       |__janus kinase-3 deficiency  1 rec.
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MIM:600802