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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
Authors:A. Peijnenburg  R. Van den Berg  M.J.C.A. Van Eggermond  Ö. Sanal  J. M. J. J. Vossen  A. -M. Lennon  C. Alcaïde-Loridan  P.J. Van den Elsen
Affiliation:(1) Department of Immunohematology and Blood Bank, Leiden University Medical Center, Building 1, E3-Q, P.O. Box 9600, 2300 RC Leiden, The Netherlands e-mail: pvdelsen@euronet.nl Tel.:+31-71-5263831 Fax: +31-71-5216751, NL;(2) Immunology Unit, Hacettepe University Children's Hospital, Ankara, Turkey, TR;(3) Department of Pediatrics, Leiden University Medical Center, P.O. Box 9600, 2300 RC Leiden, The Netherlands, NL;(4) Unité d'Immunogénétique Humaine, Institut Pasteur, Paris, France, FR
Abstract:
Keywords:  Bare lymphocyte syndrome  MHC class II deficiency  MHC class II transactivator (CIITA)  Immunodeficiency  Gene regulation
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