A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency

A Novel Non-frameshift ADA Deletion Detected by Whole Exome Sequencing in an Iranian Family with Severe Combined Immunodeficiency

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of genetic disorders caused by early defects in the development and function of T cells. Other lymphocyte lineages (B and/or natural killer cells) are variably affected. With a worldwide frequency of approximately 1:50,000 live...

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Bibliographic Details
Main Authors: Taravat Talebi, Alireza Biglari, Mohammad Shahroeei, Majid Changi-Ashtiani, Hossein Dinmohammadi, Shadi Sadat Navabi, Nima Parvaneh, Xavier Bossuyt, Tina Shahani, Hassan Rokni-Zadeh
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2020-02-01
Series:Iranian Journal of Allergy, Asthma and Immunology
Subjects:
Adenosine deaminase
Severe combined immunodeficiency
Whole exome sequencing
Online Access:https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2364

Internet

https://ijaai.tums.ac.ir/index.php/ijaai/article/view/2364

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