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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.
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
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. Villa A, et al. Among authors: schwarz k. Cell. 1998 May 29;93(5):885-96. doi: 10.1016/s0092-8674(00)81448-8. Cell. 1998. PMID: 9630231 Free article.
RAG and RAG defects.
Notarangelo LD, Villa A, Schwarz K. Notarangelo LD, et al. Among authors: schwarz k. Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9. Curr Opin Immunol. 1999. PMID: 10448134 Review.
Primary immunodeficiency mutation databases.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Vihinen M, et al. Among authors: schwarz k. Adv Genet. 2001;43:103-88. doi: 10.1016/s0065-2660(01)43005-7. Adv Genet. 2001. PMID: 11037300 Review.
Omenn syndrome due to ARTEMIS mutations.
Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U. Ege M, et al. Among authors: schwarz k. Blood. 2005 Jun 1;105(11):4179-86. doi: 10.1182/blood-2004-12-4861. Epub 2005 Feb 24. Blood. 2005. PMID: 15731174 Free article.
1,625 results