Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome
نویسندگان
چکیده
منابع مشابه
Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome
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, ...
متن کاملCombined immunodeficiency associated DOCK8 mutations
Results Case report: P.G.O, 9 years old, product of healthy and not consanguinity parents. At age 6 days started a recurrent intestinal bleeding, hypoactivity and fever and was hospitalized with a diagnosis of enterocolitis and sepsis by E.coli. Five days later presented cellulitis and infectious vasculitis in members with decrease of C3. Over the years presented several episodes of pneumonia, ...
متن کاملEvaluation of Clinical and Laboratory Data in Patients with Recurrent Infections and Suspected Immunodeficiency
Background: Frequent infections is among the most frequent clinical dilemmas for primary care physicians. Immunodeficiency disorders are a heterogeneous group of illnesses that predispose patients to the recurrent infections, autoimmunity and malignancies. The aim of this study was to evaluate the clinical and laboratory data collected for the final diagnosis of patients referred with recurrent...
متن کاملCombined immunodeficiency associated with DOCK8 mutations.
BACKGROUND Recurrent sinopulmonary and cutaneous viral infections with elevated serum levels of IgE are features of some variants of combined immunodeficiency. The genetic causes of these variants are unknown. METHODS We collected longitudinal clinical data on 11 patients from eight families who had recurrent sinopulmonary and cutaneous viral infections. We performed comparative genomic hybri...
متن کاملCombined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
Studying rare inherited immune disorders in patients has led to improved understanding of how the human immune system is fundamentally regulated. This knowledge is needed to develop new therapeutic agents for immunodeficiency, autoimmunity, cancer, and transplantation. One such illustrative disorder is DOCK8 deficiency, whose molecular etiology was discovered only in the past year. The discover...
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ژورنال
عنوان ژورنال: Disease Markers
سال: 2010
ISSN: 0278-0240,1875-8630
DOI: 10.1155/2010/972591