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Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics|February 16, 2000
Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndromeA C O'Connell, J M Puck, B Grimbacher, et al.Human Molecular Genetics|August 1, 1993
The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1J M Puck, S M Deschênes, J C Porter, et al.The EMBO Journal|March 17, 1999
Autosomal SCID caused by a point mutation in the N-terminus of Jak3: mapping of the Jak3-receptor interaction domainN A Cacalano, T S Migone, F Bazan, et al.Scandinavian Journal of Immunology|June 16, 2011
Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotypeM Moncada-Vélez, A Vélez-Ortega, J Orrego, et al.Journal of Immunology (Baltimore, Md. : 1950)|February 15, 1997
Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunityI J Fuss, W Strober, J K Dale, et al.Clinical Immunology (Orlando, Fla.)|September 25, 1999
Expression in transgenic mice of dominant interfering Fas mutations: a model for human autoimmune lymphoproliferative syndromeY Choi, V R Ramnath, A S Eaton, et al.The Journal of Clinical Investigation|May 1, 1990
X-linked severe combined immunodeficiency. Diagnosis in males with sporadic severe combined immunodeficiency and clarification of clinical findingsM E Conley, R H Buckley, R Hong, et al.Human Mutation|April 13, 1999
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. OnlineF X Arrendondo-Vega, I Santisteban, L D Notarangelo, et al.Blood|August 26, 1998
Retroviral marking of canine bone marrow: long-term, high-level expression of human interleukin-2 receptor common gamma chain in canine lymphocytesT Whitwam, M E Haskins, P S Henthorn, et al.Nature|September 7, 1995
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)P Macchi, A Villa, S Giliani, et al.Pageof 14