RelB deficiency causes combined immunodeficiency
نویسندگان
چکیده
منابع مشابه
A nonsense mutation in IKBKB causes combined immunodeficiency.
Identification of the molecular etiologies of primary immunodeficiencies has led to important insights into the development and function of the immune system. We report here the cause of combined immunodeficiency in 4 patients from 2 different consanguineous Qatari families with similar clinical and immunologic phenotypes. The patients presented at an early age with fungal, viral, and bacterial...
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mice are discussed by Alfred S. Steinberg who presents data in support of the idea that early loss of a thymic regulatory function in these mice may account for a breakdown in tolerance to "self" and certain other antigens, leading to excessive antibody responses with immune complex formation. The last two chapters, one by Stanley A. Plotkin, the other by Frautisek Sokol, deal, respectively, wi...
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The nature of the association of adenosine deaminase deficiency and severe combined immunodeficiency disease is reviewed . The basis for the molecular heterogeneity exhibited by adenosine deaminase in human tissue and the mechanisms whereby a deficiency of this activity results in the extreme perturbation of the immune system as observed in severe combined immunodeficiency are critically discus...
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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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A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
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ژورنال
عنوان ژورنال: LymphoSign Journal
سال: 2015
ISSN: 2292-5937,2292-5945
DOI: 10.14785/lpsn-2015-0005