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Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Speckmann C, Pannicke U, Wiech E, Schwarz K, Fisch P, Friedrich W, Niehues T, Gilmour K, Buiting K, Schlesier M, Eibel H, Rohr J, Superti-Furga A, Gross-Wieltsch U, Ehl S. Speckmann C, et al. Among authors: schwarz k. Blood. 2008 Nov 15;112(10):4090-7. doi: 10.1182/blood-2008-04-153361. Epub 2008 Aug 26. Blood. 2008. PMID: 18728247 Free article.
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. Schwarz K, et al. Science. 1996 Oct 4;274(5284):97-9. doi: 10.1126/science.274.5284.97. Science. 1996. PMID: 8810255
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. Villa A, et al. Among authors: schwarz k. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
1,650 results