Abstract
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.
Copyright © 2012 Elsevier Inc. All rights reserved.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Anti-Bacterial Agents / therapeutic use
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B-Lymphocytes / immunology
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B-Lymphocytes / metabolism
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Bacterial Infections / immunology
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Child
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Child, Preschool
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Cytokines / biosynthesis
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Cytokines / immunology
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Female
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Guanine Nucleotide Exchange Factors / deficiency*
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Guanine Nucleotide Exchange Factors / genetics
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Guanine Nucleotide Exchange Factors / immunology
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Hematopoietic Stem Cell Transplantation
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Humans
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Immunoglobulins / blood
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Immunoglobulins / immunology
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Immunoglobulins, Intravenous / therapeutic use
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Immunologic Deficiency Syndromes / genetics
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Immunologic Deficiency Syndromes / immunology*
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Infant
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Kuwait
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Leukocytes, Mononuclear / immunology
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Leukocytes, Mononuclear / metabolism
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Lymphocyte Activation / immunology
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Male
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Mutation
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Mycoses / immunology
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T-Lymphocytes / immunology
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Treatment Outcome
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Virus Diseases / immunology
Substances
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Anti-Bacterial Agents
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Cytokines
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DOCK8 protein, human
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Guanine Nucleotide Exchange Factors
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Immunoglobulins
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Immunoglobulins, Intravenous