Summary of the position and nature of the mutations inRAG-dependent immunodeficiency.

Frameshift mutations are indicated by a triangle, nonsense mutations by a circle, and missense mutations by a square. Open symbols refer to homozygous alleles, and filled symbols represent alleles found at the heterozygote status. (A) RAG-1. (B) RAG-2. In both panels, mutations are shown according to the 4 categories discussed in the text: T-B- SCID (SCID) and SCID with maternal fetal transfusion (SCID/MFT), which are shown above the bars; atypical SCID/OS (at SCID/OS) and Omenn syndrome (OS), which are shown below the bars. The various domains defined in RAG-1 (A) andRAG-2 (B) are shown at the right of the panels.