Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome

Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome

The prevalence of primary immunodeficiency (PID) is rather high in Iran compared to the world average, mainly due to the high rate of consanguineous marriage. Despite that, little genetic information is available about primary immunodeficiencies in Iran. Autosomal recessive hyper IgE syndrome (AR-H...

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Bibliographic Details
Main Authors: Ali Aghebati-Maleki, Tina Shahani, Tooba Momen, Soheila Alyasin, Majid Changi-Ashtiani, Alireza Biglari, Mohammad Shahrooei, Asiyeh Sadat Javanian, Suzan Amini, Xavier Bossuyt, Hassan Rokni-Zadeh
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2020-04-01
Series:Iranian Journal of Allergy, Asthma and Immunology
Subjects:
Dedicator of cytokinesis 8
Exome-first approach
Hyper IgE syndrome
Whole exome sequencing
Online Access:https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2334

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https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2334

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