ORPHA:231154
Atypical/leaky severe combined immunodeficiency due to partial RAG defect
Also called Atypical/leaky SCID due to partial RAG defect, Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:231154 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Splenomegaly
- Immunodeficiency
- Severe combined immunodeficiency
- Decreased total T cell count
- Interstitial pneumonitis
- Decreased total B cell count