Abstract
DOCK8 immunodeficiency syndrome (DIDS) is a combined immunodeficiency characterized by recurrent viral infections, severe atopy, and early onset malignancy. Genetic studies revealed large, unique deletions in patients from different families and ethnic backgrounds. Clinical markers of DIDS include atopic dermatitis, allergies, cutaneous viral infections, recurrent respiratory tract infections, and malignancy. Immune assessments showed T cell lymphopenia, hyper-IgE, hypo-IgM, and eosinophilia. The impaired lymphocyte functions in DIDS patients appear central for disease pathogenesis.
Publication types
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Biomarkers / analysis
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Dermatitis, Atopic / immunology
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Dermatitis, Atopic / metabolism
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Disease Models, Animal
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Eosinophilia / immunology
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Eosinophilia / metabolism
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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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Humans
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Immunoglobulin E / analysis*
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Immunoglobulin E / biosynthesis
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Job Syndrome* / genetics
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Job Syndrome* / immunology
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Job Syndrome* / metabolism
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Lymphopenia / immunology
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Lymphopenia / metabolism
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Mice
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Mutation
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T-Lymphocytes / immunology
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T-Lymphocytes / metabolism
Substances
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Biomarkers
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DOCK8 protein, human
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Guanine Nucleotide Exchange Factors
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Immunoglobulin E