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. 2019 Feb 4;8:F1000 Faculty Rev-148. [Version 1] doi: 10.12688/f1000research.17056.1

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