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Báo cáo y học: "A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient: a case report | JOURNAL OF MEDICAL Sr CASE REPORTS Case report A novel mutation in the ADA gene causing severe combined immunodeficiency in an Arab patient a case report Ali Hellani1 Nidal Almassri2 and Khaled K Abu-Amero3 Open Access Addresses 1PGD Laboratory Saad Specialist Hospital Al-khobar 31952 Saudi Arabia 2Pathology and Laboratory Medicine Department Saad Specialist Hospital Al-khobar 31952 Saudi Arabia and 3Molecular Genetics Laboratory College of Medicine King Saud University PO Box 245 Riyadh 11411 Saudi Arabia Email AH - ali@viafet.com.au NA - nmasri@saad.com.sa KKAA - abuamero@gmail.com Corresponding author Published I April 2009 Received 10 April 2008 Journal of Medical Case Reports 2009 3 6799 doi 10.1186 1752-1947-3-6799 Accepted 23 November 2008 This article is available from http jmedicalcasereports.Com jmedicalcasereports article view 3 4 6799 2009 Hellani et al licensee Cases Network Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http creativecommons.org licenses by 3.0 which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Introduction About 20 of the cases of human severe combined immunodeficiency are the result of the child being homozygous for defective genes encoding the enzyme adenosine deaminase. To our knowledge the mutation pattern in Arab patients with severe combined immunodeficiency has never been reported previously. Case presentation A 14-month-old Arab boy had clinical features typical of severe combined immunodeficiency. His clinical picture and flow cytometric analysis raised the diagnosis of adenosine deaminase deficiency and prompted us to screen the adenosine deaminase gene for mutation s . We detected a novel mutation in exon 9 of the adenosine deaminase gene p.Arg282 Gln which we believe is the cause of the severe combined immunodeficiency phenotype observed in our patient. Conclusion This is the first .