| Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. | |
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MedLine Citation:
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PMID: 22534316 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Deficiency 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. |
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Authors:
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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; Raif S Geha |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2012-03-30 |
Journal Detail:
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Title: Clinical immunology (Orlando, Fla.) Volume: 143 ISSN: 1521-7035 ISO Abbreviation: Clin. Immunol. Publication Date: 2012 Jun |
Date Detail:
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Created Date: 2012-05-22 Completed Date: 2012-07-20 Revised Date: 2012-10-22 |
Medline Journal Info:
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Nlm Unique ID: 100883537 Medline TA: Clin Immunol Country: United States |
Other Details:
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Languages: eng Pagination: 266-72 Citation Subset: IM |
Copyright Information:
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Copyright © 2012 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Pediatrics, Faculty of Medicine, Kuwait University, and Allergy & Clinical Immunology Unit, Pediatric Department, Al-Sabah Hospital, Safat, Kuwait. wemh@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Anti-Bacterial Agents
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therapeutic use B-Lymphocytes / immunology, metabolism Bacterial Infections / immunology Child Child, Preschool Cytokines / biosynthesis, immunology Female Guanine Nucleotide Exchange Factors / deficiency*, genetics, immunology Hematopoietic Stem Cell Transplantation Humans Immunoglobulins / blood, immunology Immunoglobulins, Intravenous / therapeutic use Immunologic Deficiency Syndromes / genetics, immunology* Infant Kuwait Leukocytes, Mononuclear / immunology, metabolism Lymphocyte Activation / immunology Male Mutation Mycoses / immunology T-Lymphocytes / immunology Treatment Outcome Virus Diseases / immunology |
| Grant Support | |
ID/Acronym/Agency:
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R01 AI065617/AI/NIAID NIH HHS; R21 AI087627/AI/NIAID NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Anti-Bacterial Agents; 0/Cytokines; 0/DOCK8 protein, human; 0/Guanine Nucleotide Exchange Factors; 0/Immunoglobulins; 0/Immunoglobulins, Intravenous |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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