Recently, Buchbinder et al reported two unrelated adolescent patients with opportunistic infections, persistent lymphopenia and an early age of first clinical symptoms (recurrent bacterial sinopulmonary infections, viral infections, autoimmune disease) who exhibited compound heterozygous mutations in RAG1 and a prior clinical diagnosis of CVID made at the age of five years (patient 1) and 14 years (patient 2) of age [22]. Here, RAG1 is linked to autoimmune disease.