CIITAbase mutation publications [2002] [2001] [2000] [1999] [1997] Search PubMed latest citations for CIITA mutations 2002 Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. Dziembowska M, Fondaneche MC, Vedrenne J, Barbieri G, Wiszniewski W, Picard C, Cant AJ, Steimle V, Charron D, Alca-Loridan C, Fischer A, Lisowska-Grospierre B Immunogenetics 2002(10-11): 821-9 [PubMed abstract]. 2001 MHC class II deficiency: a disease of gene regulation. Villard J, Masternak K, Lisowska-Grospierre B, Fischer A, Reith W Medicine (Baltimore) 2001(6): 405-18 [PubMed abstract]. 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 Adv Genet 2001(): 103-88 [PubMed abstract]. Mutation in the class II trans-activator leading to a mild immunodeficiency. Wiszniewski W, Fondaneche MC, Le Deist F, Kanariou M, Selz F, Brousse N, Steimle V, Barbieri G, Alcaide-Loridan C, Charron D, Fischer A, Lisowska-Grospierre B J Immunol 2001(3): 1787-94 [PubMed abstract]. 2000 Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene. Peijnenburg A, Van den Berg R, Van Eggermond MJ, Sanal O, Vossen JM, Lennon AM, Alcaïde-Loridan C, Van den Elsen PJ Immunogenetics 2000(1): 42-9 [PubMed abstract]. 1999 Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA. Quan V, Towey M, Sacks S, Kelly AP Immunogenetics 1999(11-12): 957-63 [PubMed abstract]. 1997 Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A. Bontron S, Steimle V, Ucla C, Eibl MM, Mach B Hum Genet 1997(4): 541-6 [PubMed abstract].