T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
Definition
Severe combined immunodeficiency (SCID) T-B+ due to JAK3 deficiency is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.
Also known as SCID, autosomal recessive, T-negative/B-positive type, T-B+ SCID due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency — per MONDO