RAG1

RAG1 activates the V(D)J recombination.

Pathology

 germline mutations in

• B cell-negative SCID (MIM.601457)
• Omenn syndrome (MIM.603554)
• alpha/beta lymphopenia with gamma/delta-cell expansion, severe CMV infection and autoimmunity (16276422)
• systemic granulomatosis (18463379)

See also

 RAGs

• RAG2

References

 Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knüchel R, Göbel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008 May 8;358(19):2030-8. PMID: 18463379