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SCID is approximately 1: 50,000. 3 Recent data from California’s SCID newborn screening identified RAG1/2 mutations in 28.6% of SCID/OS cases, for an incidence of about 1: 250,000. 4 However, this may not include individuals with less severe phenotypes caused by RAG1/2 defects. We present a family affected by compound heterozygous RAG1 mutations that resulted in a combined immunodeficiency phenotype with autoimmune cytopenias. We performed a population genetic analysis to estimate the incidence of disease caused by RAG1/2 homozygous or compound heterozygous mutations and found that the contribution of immune