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RAG1 / RAG2 DEFICIENCY
CVID
X-Linked Hyper IgM Syndrome
MHC Class I Deficiency
Ataxia Telangiectasia
Nijmegen Breakage Syndrome

 
  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. 

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