A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation
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چکیده
منابع مشابه
Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.
We describe an unusual case of severe combined immunodeficiency (SCID) with neutropenia and central nervous system (CNS) manifestations in which a novel RAG1 mutation was identified. A 15-month-old boy presented with failure to thrive, neutropenia and recurrent infections. He was diagnosed with T-B-NK+ SCID. He subsequently developed right partial seizures with ipsilateral hemiparesis and becam...
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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 ...
متن کاملCLINICAL TRIALS AND OBSERVATIONS T B NK severe combined immunodeficiency caused by complete deficiency of the CD3 subunit of the T-cell antigen receptor complex
CD3 is a subunit of the T-cell antigen receptor (TCR) complex required for its assembly and surface expression that also plays an important role in TCRmediatedsignal transduction.Wereporthere a patient with T B NK severe combined immunodeficiency (SCID) who was homozygous for a single C insertion following nucleotide 411 in exon 7 of the CD3 gene. The few T cells present contained no detectable...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 2005
ISSN: 0021-9738
DOI: 10.1172/jci26121