Article
Clinical and immunological assessment of children with ataxia telangiectasia attending Sohag university hospital in Upper Egypt.
The Egyptian journal of immunology - 1 Oct 2021
Fahmy Eman M, Salama Eman H, El-Mokhtar Mohamed A, Sadek Abdelrahim A
Abstract excerpt
Ataxia Telangiectasia (AT) is a very rare autosomal recessive primary immune deficiency (PID) disease that affects 1 in 10,000-40,000 new births per year in the world. It is caused by biallelic mutations in ataxia telangiectasia mutated (ATM) gene and characterized by a progressive cerebellar ataxia. The clinical profile of AT children in Upper Egypt in missing. Herein, we evaluated the clinical characteristics...
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