title: Current Status of Dedicator of Cytokinesis-Associated Immunodeficiency: DOCK8 and DOCK2.
abstract: DOCK8 deficiency is an autosomal recessive combined immunodeficiency disease associated with elevated IgE, atopy, recurrent sinopulmonary and cutaneous viral infections, and malignancy. The DOCK8 protein is critical for cytoskeletal organization, and deficiency impairs dendritic cell transmigration, T-cell survival, and NK cell cytotoxicity. Early hematopoietic stem cell transplantation is gaining prominence as a definitive treatment given the potential for severe complications and mortality in this disease. Recently, DOCK2 deficiency has been identified in several patients with early-onset invasive bacterial and viral infections.
authors.affiliation: Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
authors.forename: Dimana
authors.initials: D
authors.lastname: Dimitrova
authors.affiliation: Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address: freemaal@mail.nih.gov.
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Freeman
mesh_terms: D000818:Animals; D001402:B-Lymphocytes / Q000276:immunology; D002294:Carcinoma, Squamous Cell / Q000276:immunology / Q000821:virology; D002481:Cellulitis / Q000276:immunology; D003876:Dermatitis, Atopic / Q000276:immunology; D020031:Epstein-Barr Virus Infections / Q000276:immunology; D020690:GTPase-Activating Proteins; D018858:Germinal Center / Q000276:immunology; D020662:Guanine Nucleotide Exchange Factors / Q000172:deficiency / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007073:Immunoglobulin E / Q000276:immunology; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000276:immunology*; D007694:Killer Cells, Natural / Q000276:immunology; D008223:Lymphoma / Q000276:immunology / Q000821:virology; D016410:Lymphoma, T-Cell, Cutaneous / Q000276:immunology / Q000821:virology; D051379:Mice; D030361:Papillomavirus Infections / Q000276:immunology; D011014:Pneumonia / Q000276:immunology; D012008:Recurrence; D012852:Sinusitis / Q000276:immunology; D017192:Skin Diseases, Bacterial / Q000276:immunology*; D017193:Skin Diseases, Viral / Q000276:immunology*; D012878:Skin Neoplasms / Q000276:immunology* / Q000821:virology; D013601:T-Lymphocytes / Q000276:immunology; D014860:Warts / Q000276:immunology
chemical_list: C402110:DOCK2 protein, human; C516591:DOCK8 protein, human; D020690:GTPase-Activating Proteins; D020662:Guanine Nucleotide Exchange Factors; D007073:Immunoglobulin E
keywords: Atopic dermatitis; Cutaneous viral infection; Dedicator of cytokinesis 2; Dedicator of cytokinesis 8; Immunodeficiency; Malignancy