RAG1 / RAG2 Deficiency​

 

               

RAG1 / RAG2 Deficiency - Three patients with granulomata in the skin, mucous membranes, and internal organs have been reported. The mutations were associated with diminished but not absent RAG function (3-30% of normal). Patients had hypogammaglobulinemia with T and B lymphopenia but did not have a SCID phenotype.