ORPHA:35078
T-B+NK- severe combined immunodeficiency due to JAK3 deficiency
Also called T-B+NK- SCID due to JAK3 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:35078 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Impaired lymphocyte transformation with phytohemagglutinin
- Lack of T cell function
- Decreased total T cell count
- Decreased lymphocyte proliferation in response to mitogen
- Lymphopenia
- Chronic diarrhea