renal failure associated with apeced and terminal 4q deletion evidence of autoimmune nephropathy肾功能衰竭与亚太经合组织和终端4 q删除自身免疫性肾病的证据.pdf

Hindawi Publishing Corporation Clinical and Developmental Immunology Volume 2010, Article ID 586342, 7 pages doi:10.1155/2010/586342 Case Report Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy Mohammed Al-Owain,1, 2 Namik Kaya,3 Hamad Al-Zaidan,1, 2 Ibrahim Bin Hussain,4 Hadeel Al-Manea,5 Hindi Al-Hindi,5 Shelley Kennedy,6 M. Anwar Iqbal,7 Hamad Al-Mojalli,4 Albandary Al-Bakheet,3 Anne Puel,8 Jean-Laurent Casanova,8, 9 and Saleh Al-Muhsen4, 9, 10 1 Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia 2 College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia 3 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia 4 Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia 5 Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia 6 Ontario Newborn Screening Program, Children’s Hospital of Eastern Ontario, Ottawa, ON, Canada K1H8L1 7 Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA 8 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U550, 75015 Paris, France 9 Department of Pediatrics, College of Medicine and Prince Naif Center for Immunology Research, King Saud University, P.O. Box 2925, Riyadh 11461, Saudi Arabia 10Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia Correspondence should be addressed to Saleh Al-Muhsen, almuhsen@.sa Received 23 July 2010; Revised 12 October 2010; Accepted 9 November 2010 Academic Editor: Nima Rezaei Cop