Combined Immunodeficiency Associated with DOCK8 Mutations and Related Immunodeficiencies
نویسندگان
چکیده
منابع مشابه
Combined 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...
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 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...
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The association of multiple non-caseating granulomata and a positive Kviem test is normally considered to be indicative of a diagnosis of sarcoidosis. However, although depressed cell-mediated immunity is commonly described, it is extremely rare to find a humoral immune paresis. A patient is reported who had multiple granulomata, depressed cellular and humoral immunity and a positive Kveim test.
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To the Editor: Immunodeficiencies featuring congenital neutropenia have varying presentations, including life-threatening bacterial infections. These conditions can be caused by defects in more than 10 genes. Most genes operate in the endolysosomal system, and their perturbed action induces unfolded protein response and altered mitochondrial function. The resulting cell stress drives neutrophil...
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ژورنال
عنوان ژورنال: Disease Markers
سال: 2010
ISSN: 0278-0240,1875-8630
DOI: 10.1155/2010/607891