Table 1. Clinical phenotypes in patients with mutations in RAG1 or RAG2.
Phenotype | Autoimmunity described |
---|---|
Severe combined immunodeficiency
(SCID) |
No |
Omenn syndrome | Yes |
“Atypical” SCID | Yes |
Combined immunodeficiency | Yes |
Combined immunodeficiency with granulomas | Yes |
Common variable immunodeficiency | Yes |
Miscellaneous autoimmunity | Yes |
Chronic multi-focal osteomyelitis | No |
Pyoderma gangrenosum | No |
Idiopathic CD4+ lymphocytopenia | No |
No clinical abnormality | No |