Zeitschrift für Hämatologie und thromboembolische Erkrankungen
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Ataxia Telangiectasia Presenting with Idiopathic Thrombocytopenic Purpura in a 4-Year-Old Boy

Sara I, Ali Saeedi B, Arash A and Abolnezhadian F

Ataxia Telangiectasia (AT) is autosomal recessive disorder, characterized by progressive neuro degeneration telangiectasia, immunodeficiency, cancer susceptibility, and some laboratory abnormalities. It is a rare immunodeficiency disease and AT disease is due to the mutation in the gene Ataxia-Telangiectasia Mutated located on chromosome. This study shows that finally the importance of the clinical case introduced is whether the mutation in gene expressing Ataxia-Telangiectasia Mutated can disrupt the complex mechanisms of central and peripheral tolerance of immune system.