Home > A. Molecular pathology > RAG1
RAG1
MIM.179615 11p13
Friday 9 May 2008
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
