RAG2base mutation publications [2009] [2008] [2006] [2004] [2002] [2001] [2000] [1999] [1998] [1996] [1991] Search PubMed latest citations for RAG2 mutations 2009 Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. Sadeghi-Shabestari M, Vesal S, Jabbarpour-Bonyadi M, de Villatay JP, Fischer A, Rezaei N J Investig Allergol Clin Immunol 2009(6): 494-6 [PubMed abstract]. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, Notarangelo LD Blood 2009(1): 105-8 [PubMed abstract]. Omenn syndrome due to mutation of the RAG2 gene. Ktiouet S, Bertrand Y, Rival-Tringali AL, Kanitakis J, Malcus C, Poitevin F, Picard C, Claudy A, Faure M J Eur Acad Dermatol Venereol 2009(12): 1449-51 [PubMed abstract]. 2008 An immunodeficiency disease with RAG mutations and granulomas. 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 N Engl J Med 2008(19): 2030-8 [PubMed abstract]. 2006 RAG-dependent primary immunodeficiencies. Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A Hum Mutat 2006(12): 1174-84 [PubMed abstract]. 2004 Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. Tabori U, Mark Z, Amariglio N, Etzioni A, Golan H, Biloray B, Toren A, Rechavi G, Dalal I Clin Genet 2004(4): 322-6 [PubMed abstract]. 2002 The immunophenotypic and immunogenotypic B-cell differentiation arrest in bone marrow of RAG-deficient SCID patients corresponds to residual recombination activities of mutated RAG proteins. Noordzij JG, de Bruin-Versteeg S, Verkaik NS, Vossen JM, de Groot R, Bernatowska E, Langerak AW, van Gent DC, van Dongen JJ Blood 2002(6): 2145-52 [PubMed abstract]. 2001 Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist FL, Fischer A, de Villartay JP Blood 2001(9): 2772-6 [PubMed abstract]. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K Blood 2001(1): 81-8 [PubMed abstract]. 2000 Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. Gomez CA, Ptaszek LM, Villa A, Bozzi F, Sobacchi C, Brooks EG, Notarangelo LD, Spanopoulou E, Pan ZQ, Vezzoni P, Cortes P, Santagata S Mol Cell Biol 2000(15): 5653-64 [PubMed abstract]. Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency. Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP J Biol Chem 2000(17): 12672-5 [PubMed abstract]. 1999 Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, Bozzi F, Albertini A, Ugazio AG, Vezzoni P, Notarangelo LD Blood 1999(10): 3468-78 [PubMed abstract]. 1998 Partial V(D)J recombination activity leads to Omenn syndrome. Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E Cell 1998(5): 885-96 [PubMed abstract]. 1996 RAG mutations in human B cell-negative SCID. Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR Science 1996(5284): 97-9 [PubMed abstract]. CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition. Chilosi M, Facchetti F, Notarangelo LD, Romagnani S, Del Prete G, Almerigogna F, De Carli M, Pizzolo G Eur J Immunol 1996(2): 329-34 [PubMed abstract]. 1991 Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome). de Saint-Basile G, Le Deist F, de Villartay JP, Cerf-Bensussan N, Journet O, Brousse N, Griscelli C, Fischer A J Clin Invest 1991(4): 1352-9 [PubMed abstract].