Article
Exome-first Approach Identified Novel Homozygous Dedicator of Cytokinesis 8 (DOCK8) Mutations in Three Unrelated Iranian Pedigrees Suspected with Hyper-IgE Syndrome.
Iranian journal of allergy, asthma, and immunology - 16 Apr 2020
Aghebati-Maleki Ali, Shahani Tina, Momen Tooba, Alyasin Soheila, Changi-Ashtiani Majid, Biglari Alireza, Shahrooei Mohammad, Javanian Asiyeh Sadat, Amini Suzan, Bossuyt Xavier, Rokni-Zadeh Hassan
Abstract excerpt
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-HIES) is a severe type of immunodeficiency, mainly caused by mutations in the dedicator of cytokinesis 8 (DOCK8)....
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