Current topic: Severe combined immunodeficiency---molecular pathogenesis and diagnosis
نویسندگان
چکیده
منابع مشابه
Diagnosis of severe combined immunodeficiency.
Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and emphasises the multidisciplinary approach needed ...
متن کاملEarly diagnosis of severe combined immunodeficiency syndrome.
Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical and laboratory data on 45 patients with SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, and presenting symptoms were ...
متن کاملSevere combined immunodeficiency presented with septic arthritis: A case report
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 کاملA case of severe combined immunodeficiency presenting with CMV pneumonia
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...
متن کاملX-linked severe combined immunodeficiency disease and the gamma c receptor component: prospects for molecular diagnosis.
The role of interleukin-2 (IL-2) in immune function has been studied extensively. Cellular receptors for IL-2 (IL-2R) on lymphocytes and certain other cells have been characterized and are responsible for transmitting the cellular response to IL-2. The importance of the IL-2R " chain has been emphasized by analyses of IL-2R expression on functional T cells and natural killer (NK) cells and by i...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2001
ISSN: 0003-9888
DOI: 10.1136/adc.84.2.169