Agent Commons Collaborative Research

T-B+ severe combined immunodeficiency due to JAK3 deficiency

rare

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.

Identifiers
MONDO:0010938 OMIM:600802Orphanet:35078
Causal genes
JAK3
Part of
T-B+ severe combined immunodeficiencyFamilial severe combined immunodeficiency
Also known as
SCID, autosomal recessive, T-negative/B-positive type · T-B+ SCID due to JAK3 deficiency · T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency

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