Disease Markers

Disease Markers / 2010 / Article
Special Issue

Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies

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Open Access

Volume 29 |Article ID 972591 | 9 pages | https://doi.org/10.3233/DMA-2010-0737

Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

Received14 Dec 2010
Accepted14 Dec 2010

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.

Copyright © 2010 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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