Document Detail


Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait.
MedLine Citation:
PMID:  22534316     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-03-30
Journal Detail:
Title:  Clinical immunology (Orlando, Fla.)     Volume:  143     ISSN:  1521-7035     ISO Abbreviation:  Clin. Immunol.     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-22     Completed Date:  2012-07-20     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  100883537     Medline TA:  Clin Immunol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  266-72     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Elsevier Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Anti-Bacterial Agents / 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:
R01 AI065617/AI/NIAID NIH HHS; R01 AI100315/AI/NIAID NIH HHS; R21 AI087627/AI/NIAID NIH HHS
Chemical
Reg. No./Substance:
0/Anti-Bacterial Agents; 0/Cytokines; 0/DOCK8 protein, human; 0/Guanine Nucleotide Exchange Factors; 0/Immunoglobulins; 0/Immunoglobulins, Intravenous
Comments/Corrections

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