Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID)
نویسندگان
چکیده
منابع مشابه
Cartilage-hair hypoplasia (CHH)
Note: CHH was first described in the Amish, an isolated religious group in the USA by Victor McKusick in 1965. It is a multi-systemic disorder characterized by short stature, blond fine sparse hair, but this may be quite variable, and defective cellular immunity predominantly affecting T-cell mediated responses. Patients may have severe combined immunodeficiency, requiring bone marrow transplan...
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Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...
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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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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 Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and...
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ژورنال
عنوان ژورنال: Clinical & Experimental Immunology
سال: 2008
ISSN: 0009-9104
DOI: 10.1111/j.1365-2249.1995.tb06628.x