ORPHA:275
T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency
Also called SCID T-B-NK+ due to ARTEMIS deficiency, SCID T-B-NK+ due to DCLRE1C deficiency, SCID T-B-NK+, Athabascan type, SCID T-B-NK+, Athabaskan type, T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency, T-B-NK+ severe combined immunodeficiency, Athabascan type, T-B-NK+ severe combined immunodeficiency, Athabaskan type
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- Unknown (Worldwide)
- Rarity class
- Unknown
ORPHA:275 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Decreased total T cell count
- Decreased total B cell count
- Autoimmune hemolytic anemia
- Bronchiectasis
- Recurrent bacterial infections
- Decreased circulating IgA level