title: Genetic, clinical, and laboratory markers for DOCK8 immunodeficiency syndrome.
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.
authors.affiliation: Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhang
authors.forename: Jeremiah C
authors.initials: JC
authors.lastname: Davis
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Dove
authors.forename: Helen C
authors.initials: HC
authors.lastname: Su
mesh_terms: D000818:Animals; D015415:Biomarkers / Q000032:analysis; D003876:Dermatitis, Atopic / Q000276:immunology / Q000378:metabolism; D004195:Disease Models, Animal; D004802:Eosinophilia / Q000276:immunology / Q000378:metabolism; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency / Q000235:genetics / Q000276:immunology; D006801:Humans; D007073:Immunoglobulin E / Q000032:analysis* / Q000096:biosynthesis; D007589:Job Syndrome / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D008231:Lymphopenia / Q000276:immunology / Q000378:metabolism; D051379:Mice; D009154:Mutation; D013601:T-Lymphocytes / Q000276:immunology / Q000378:metabolism
chemical_list: D015415:Biomarkers; C516591:DOCK8 protein, human; D020662:Guanine Nucleotide Exchange Factors; D007073:Immunoglobulin E