ORPHA:331206
T-B-NK+ severe combined immunodeficiency due to complete RAG1/2 deficiency
Also called T-B-NK+ SCID due to complete RAG1/2 deficiency
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy
- Estimated prevalence
- 1-9 / 100 000 (Europe)
- Rarity class
- 1-9 / 100 000
ORPHA:331206 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Decreased circulating IgA level
- Decreased circulating total IgM
- Decreased circulating antibody level
- Decreased circulating IgG level
- Abnormal B cell count
- Abnormal T cell count