V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

doi:10.1182/blood.v97.1.81

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Article

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.

Blood - 1 Jan 2001

Villa A, Sobacchi C, Notarangelo L D, Bozzi F, Abinun M, Abrahamsen T G, Arkwright P D, Baniyash M, Brooks E G, Conley M E, Cortes P, Duse M, Fasth A, Filipovich A M, Infante A J, Jones A, Mazzolari E, Muller S M, Pasic S, Rechavi G, Sacco M G, Santagata S, Schroeder M L, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler L B, Ochs H, Vezzoni P, Friedrich W, Schwarz K

Abstract excerpt

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of primary immunodeficiencies, a proportion of which are due to mutations in either of the 2 recombination activating genes (RAG)-1 and -2, which mediate the process of V(D)J recombination leading to the assembly of antigen receptor genes. It is reported here that the clinical and immunologic phenotypes of patients bearing mutations in RAGs...

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PMID: 11133745
DOI: 10.1182/blood.v97.1.81

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