Whole exome analysis of primary immunodeficiency
نویسندگان
چکیده
منابع مشابه
Genetic Diagnosis Using Whole Exome Sequencing in Common Variable Immunodeficiency
Whole exome sequencing (WES) has proven an effective tool for the discovery of genetic defects in patients with primary immunodeficiencies (PIDs). However, success in dissecting the genetic etiology of common variable immunodeficiency (CVID) has been limited. We outline a practical framework for using WES to identify causative genetic defects in these subjects. WES was performed on 50 subjects ...
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Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
متن کاملWhole Exome Sequencing
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متن کاملWhole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
Primary ciliary dyskinesia (PCD) is an autosomal-recessive disorder resulting from loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. Clinical features may be subtle and highly variable, making the diagnosis of PCD challenging. The diagnosis can be confirmed with ciliary ultrastructure analysis and...
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Background We investigated the molecular etiology of a young male proband with confirmed immunodeficiency of unknown cause, presenting with recurrent bacterial and Varicella zoster viral infections in childhood and persistent lymphopenia into early adulthood. Aim To identify causative functional genetic variants related to an undiagnosed primary immunodeficiency. Method Whole genome microar...
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ژورنال
عنوان ژورنال: Vavilov Journal of Genetics and Breeding
سال: 2018
ISSN: 2500-3259,2500-0462
DOI: 10.18699/vj18.403