Genetics of severe combined immunodeficiency
نویسندگان
چکیده
منابع مشابه
A 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 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 کاملEquine Severe Combined Immunodeficiency
Severe Combined Immunodeficiency (SCID) is a disease with a genetic background in Arabian horses and crossbreeds with Arabians. The disease has been known and documented since the 1970’s and was early suggested to have an autosomal recessive mode of inheritance. Foals that are affected with SCID lack production of both B and T lymphocytes and consequently die from secondary diseases within a sh...
متن کاملDiagnosis 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 کاملSomatic cell genetics of adenosine deaminase expression and severe combined immunodeficiency disease in humans.
The somatic cell hybrid method has been used to study the number and different types of human genes involved in the expression of adenosine deaminase (ADA; adenosine aminohydrolase, EC 3.5.4.4) in normal cells and cells from a patient with ADA-deficient severe combined immunodeficiency disease (SCID). Genetic and biochemical characterization of ADA in SCID and the ADA tissue-specific isozymes i...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genes & Diseases
سال: 2020
ISSN: 2352-3042
DOI: 10.1016/j.gendis.2019.07.004