T-B+ severe combined immunodeficiency due to JAK3 deficiency
ORPHA:35078· ICD-10 D81.2
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal