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-HI...

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Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Tehran University of Medical Sciences 2020-04-01
coleção:	Iranian Journal of Allergy, Asthma and Immunology
Assuntos:	Dedicator of cytokinesis 8 Exome-first approach Hyper IgE syndrome Whole exome sequencing
Acesso em linha:	https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2334
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