Primary Immunodeficiency Diseases Associated with Neurologic Manifestations

被引：0
作者：
Soodabeh Fazeli Dehkordy
Asghar Aghamohammadi
Hans D. Ochs
Nima Rezaei
机构：
[1] Tehran University of Medical Sciences,Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center
[2] Tehran University of Medical Sciences,Molecular Immunology Research Center and Department of Immunology, School of Medicine
[3] University of Washington,Department of Pediatrics
[4] Seattle Children’s Research Institute,Department of Infection and Immunity, School of Medicine and Biomedical Sciences
[5] The University of Sheffield,undefined
来源：
Journal of Clinical Immunology | 2012年 / 32卷
关键词：
Primary immunodeficiency diseases; neurologic manifestations; ataxia-telangiectasia; DNA damage;
D O I：
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中图分类号：
学科分类号：
摘要：
Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of the immune system, predisposing individuals to recurrent infections, allergy, autoimmunity, and malignancies. A considerable number of these conditions have been found to be also associated with neurologic signs and symptoms. These manifestations are considered core features of some immunodeficiency syndromes, such as ataxia-telangiectasia and purine nucleoside phosphorylase deficiency, or occur less prominently in some others. Diverse pathological mechanisms including defective responses to DNA damage, metabolic errors, and autoimmune phenomena have been associated with neurologic abnormalities; however, several issues remain to be elucidated. Greater awareness of these associated features and gaining a better understanding of the contributing mechanisms will lead to prompt diagnosis and treatment and possibly development of novel preventive and therapeutic strategies. In this review, we aim to provide a brief description of the clinical and genetic characteristics of PID associated with neurologic complications.
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页码：1 / 24
页数：23
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