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- Waleed Al-Herz, Raj Ragupathy, Michel J Massaad, Raja'a Al-Attiyah, Arti Nanda, Karin R Engelhardt, Bodo Grimbacher, Luigi Notarangelo, Talal Chatila, and Raif S Geha.
- Department of Pediatrics, Faculty of Medicine, Kuwait University, and Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Safat, Kuwait. wemh@hotmail.com
- Clin. Immunol. 2012 Jun 1;143(3):266-72.
AbstractDeficiency of dedicator of cytokinesis 8 (DOCK8) is a newly described combined primary immunodeficiency disease. It was found to account for 15% of combined immune deficiency cases in the National Primary Immunodeficiency Disorders Registry in Kuwait, a country with high prevalence of consanguinity. We present the clinical, immunologic and molecular characteristics of 9 Kuwaiti patients with DOCK8 deficiency and discuss differences that distinguish DOCK8 deficiency from atopic dermatitis. Clinical immunologists in areas with high incidence of consanguinity should have a high index of suspicion of DOCK8 deficiency in children with recalcitrant eczema, recurrent non-cutaneous infections and lymphopenia.Copyright © 2012 Elsevier Inc. All rights reserved.
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