Combined Immunodeficiency Associated withDOCK8Mutations
نویسندگان
چکیده
منابع مشابه
Combined 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, ...
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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.
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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Severe combined immunodeficiency is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T-lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. Without intervention, the T and B-cell dysfunction usually results in severe infection and death in ...
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Transfusion-associated graft-versus-host disease (TA-GVHD) is a rare complication of cellular blood component transfusion that produces a graft-versus-host clinical picture with concomitant bone marrow aplasia. We report the case of 2 patients with severe combined immunodeficiency (SCID) who developed TA-GvHD. Both patients had been given nonirradiated erythrocyte suspension before the diagnosi...
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 2009
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejmoa0905506