Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations
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 …
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 …
