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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. 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
CD3 delta immunodeficiency.
Roifman CM. Roifman CM. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):479-84. doi: 10.1097/00130832-200412000-00002. Curr Opin Allergy Clin Immunol. 2004. PMID: 15640687 Review.
Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005.
Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. Notarangelo L, et al. J Allergy Clin Immunol. 2006 Apr;117(4):883-96. doi: 10.1016/j.jaci.2005.12.1347. J Allergy Clin Immunol. 2006. PMID: 16680902
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. 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.
220 results