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Page 1
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
Marrella V, Poliani PL, Casati A, Rucci F, Frascoli L, Gougeon ML, Lemercier B, Bosticardo M, Ravanini M, Battaglia M, Roncarolo MG, Cavazzana-Calvo M, Facchetti F, Notarangelo LD, Vezzoni P, Grassi F, Villa A. Marrella V, et al. J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928. J Clin Invest. 2007. PMID: 17476358 Free PMC article.
Cardiac thrombus in Omenn syndrome.
Kilic SS, Cil E, Meral A, Villa A. Kilic SS, et al. Pediatr Cardiol. 2005 Sep-Oct;26(5):694-7. doi: 10.1007/s00246-005-0868-9. Pediatr Cardiol. 2005. PMID: 16088419
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
de Villartay JP, Lim A, Al-Mousa H, Dupont S, Déchanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F. de Villartay JP, et al. J Clin Invest. 2005 Nov;115(11):3291-9. doi: 10.1172/JCI25178. J Clin Invest. 2005. PMID: 16276422 Free PMC article.
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R. Cavadini P, et al. J Clin Invest. 2005 Mar;115(3):728-32. doi: 10.1172/JCI23087. J Clin Invest. 2005. PMID: 15696198 Free PMC article.
Omenn syndrome in an infant with IL7RA gene mutation.
Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A, Malvezzi M, Fischer A, Notarangelo LD, Le Deist F. Giliani S, et al. J Pediatr. 2006 Feb;148(2):272-4. doi: 10.1016/j.jpeds.2005.10.004. J Pediatr. 2006. PMID: 16492442