RAG1 and Immunodeficiency: Clinical exome sequencing revealed a homozygous, likely pathogenic, missense variant in exon 2 of the RAG1 gene, resulting in the amino acid substitution of lysine for glutamic acid at codon 770 (c.2308G>A; p. Glu770Lys), confirming the diagnosis of autosomal recessive B negative severe combined immune deficiency [19].