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