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Disease Markers
Volume 29 (2010), Issue 3-4, Pages 131-139
http://dx.doi.org/10.3233/DMA-2010-0737

Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

Jeremiah C. Davis,2 Christopher G. Dove,1 and Helen C. Su1

1Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
2Seattle Children's Hospital/University of Washington School of Medicine, Department of Pediatrics, Seattle, USA

Received 14 December 2010; Accepted 14 December 2010

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.

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.