Home > A. Molecular pathology > RAG2
RAG2
MIM.179616 11p13
Friday 9 May 2008
Pathology
germline mutations in
- B-cell negative-SCID
- Omenn syndrome
- systemic granulomatoses (18463379)
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