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Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS. Arrendondo-Vega FX, et al. Among authors: notarangelo ld. Hum Mutat. 1998;11(6):482. doi: 10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E. Hum Mutat. 1998. PMID: 10200056
Bone marrow transplantation for severe combined immune deficiency.
Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo LD, Roifman CM. Grunebaum E, et al. Among authors: notarangelo ld. JAMA. 2006 Feb 1;295(5):508-18. doi: 10.1001/jama.295.5.508. JAMA. 2006. PMID: 16449616
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.
Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Geha RS, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2007 Oct;120(4):776-94. doi: 10.1016/j.jaci.2007.08.053. J Allergy Clin Immunol. 2007. PMID: 17952897 Free PMC article.
Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.
Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT. Griffith LM, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2008 Dec;122(6):1087-96. doi: 10.1016/j.jaci.2008.09.045. Epub 2008 Nov 6. J Allergy Clin Immunol. 2008. PMID: 18992926 Free PMC article.
747 results