| Cutaneous Manifestations of DOCK8 Deficiency Syndrome. | |
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MedLine Citation:
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PMID: 21931011 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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BACKGROUND: Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job's syndrome. Distinguishing between DOCK8 deficiency and Job's syndrome, also referred to as autosomal dominant hyper-IgE syndrome, on the basis of clinical findings alone is challenging. The discovery of the DOCK8 mutation has made it possible to differentiate the cutaneous manifestations of these hyper-IgE syndromes. OBSERVATIONS: Twenty-one patients from 14 families with confirmed homozygous or compound heterozygous mutations in DOCK8 were evaluated. Clinical findings included dermatitis, asthma, food and environmental allergies, recurrent sinopulmonary infections, staphylococcal skin abscesses, and severe cutaneous viral infections. Malignant neoplasms, including aggressive cutaneous T-cell lymphoma, anal and vulvar squamous cell carcinomas, and diffuse large B-cell lymphoma, developed in 5 patients during adolescence and young adulthood. CONCLUSIONS: DOCK8 deficiency and Job's syndrome share several clinical features, including elevated serum IgE levels, dermatitis, recurrent sinopulmonary infections, and cutaneous staphylococcal abscesses. However, the presence of recalcitrant, widespread cutaneous viral infections, asthma, and food and environmental allergies, as well as the absence of newborn rash and coarse facies, favors the clinical diagnosis of DOCK8 deficiency. Rates of malignancy and overall mortality in patients with DOCK8 deficiency were higher than in those with Job's syndrome, highlighting the value of distinguishing between these conditions and the importance of close monitoring for neoplasia. |
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Authors:
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Emily Y Chu; Alexandra F Freeman; Huie Jing; Edward W Cowen; Joie Davis; Helen C Su; Steven M Holland; Maria L Chanco Turner |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-9-19 |
Journal Detail:
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Title: Archives of dermatology Volume: - ISSN: 1538-3652 ISO Abbreviation: - Publication Date: 2011 Sep |
Date Detail:
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Created Date: 2011-9-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0372433 Medline TA: Arch Dermatol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Center for Cancer Research, National Cancer Institute (Drs Chu, Cowen, and Turner), and the National Institute of Allergy and Infectious Diseases (Drs Freeman, Jing, Su, and Holland and Ms Davis), Bethesda, Maryland. Dr Chu is now with the Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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