ORPHA:276
T-B+NK- severe combined immunodeficiency due to gamma chain deficiency
Also called SCIDX1, T-B+K- severe combined immunodeficiency, X-linked, T-B+NK- SCID due to gamma chain deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- X-linked recessive
- Typical age of onset
- Neonatal
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:276 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Decreased proportion of CD4-positive T cells
- Lymphopenia
- Recurrent fever
- Pneumonia
- Abnormal immunoglobulin level
- Decreased lymphocyte proliferation in response to mitogen