Affiliations: Laboratory of Host Defenses, National Institute of
Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD,
USA | Seattle Children's Hospital/University of Washington
School of Medicine, Department of Pediatrics, Seattle, USA
Note: [] Corresponding author: Dr. Helen Su, Building 10CRC, Room 5W3940,
10CRC Center Dr., MSC 1456, Bethesda, MD 20892-1456, USA. Fax: +1 301 480 0983;
E-mail: hsu@niaid.nih.gov
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.
