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PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.
Mathieu AL, Verronese E, Rice GI, Fouyssac F, Bertrand Y, Picard C, Chansel M, Walter JE, Notarangelo LD, Butte MJ, Nadeau KC, Csomos K, Chen DJ, Chen K, Delgado A, Rigal C, Bardin C, Schuetz C, Moshous D, Reumaux H, Plenat F, Phan A, Zabot MT, Balme B, Viel S, Bienvenu J, Cochat P, van der Burg M, Caux C, Kemp EH, Rouvet I, Malcus C, Méritet JF, Lim A, Crow YJ, Fabien N, Ménétrier-Caux C, De Villartay JP, Walzer T, Belot A. Mathieu AL, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2015 Jun;135(6):1578-88.e5. doi: 10.1016/j.jaci.2015.01.040. Epub 2015 Apr 2. J Allergy Clin Immunol. 2015. PMID: 25842288 Free PMC article.
Immunodeficiencies with autoimmune consequences.
Notarangelo LD, Gambineri E, Badolato R. Notarangelo LD, et al. Adv Immunol. 2006;89:321-70. doi: 10.1016/S0065-2776(05)89008-X. Adv Immunol. 2006. PMID: 16682278 Review.
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.
Primary immune deficiencies with aberrant IgE production.
Ozcan E, Notarangelo LD, Geha RS. Ozcan E, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2008 Dec;122(6):1054-62; quiz 1063-4. doi: 10.1016/j.jaci.2008.10.023. J Allergy Clin Immunol. 2008. PMID: 19084106 Review.
Treatment of immunodeficiency: long-term outcome and quality of life.
Shearer WT, Notarangelo LD, Griffith LM. Shearer WT, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2008 Dec;122(6):1065-8. doi: 10.1016/j.jaci.2008.10.033. J Allergy Clin Immunol. 2008. PMID: 19084107 Review. No abstract available.
Primary immunodeficiencies.
Notarangelo LD. Notarangelo LD. J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. doi: 10.1016/j.jaci.2009.07.053. Epub 2009 Dec 29. J Allergy Clin Immunol. 2010. PMID: 20042228 Review.
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Walter JE, et al. Among authors: notarangelo ld. J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14. J Exp Med. 2010. PMID: 20547827 Free PMC article.
748 results