Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome | Zendy

Jeremiah C. Davis | Zendy; Christopher G. Dove | Zendy; Helen C. Su | Zendy

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Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

Author(s) -

Jeremiah C. Davis,

Christopher G. Dove,

Helen C. Su

Publication year - 2010

Publication title -

disease markers

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.912

H-Index - 66

eISSN - 1875-8630

pISSN - 0278-0240

DOI - 10.1155/2010/972591

Subject(s) - immunodeficiency , immunology , atopy , eosinophilia , immunodeficiency syndrome , malignancy , allergy , primary immunodeficiency , medicine , disease , immune system , biology , pathology

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.

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