Article
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1.
Immunological investigations - 1 Aug 2022
Jafari Khamirani Hossein, Dianatpour Mehdi, Zoghi Sina, Mohammadi Sanaz, Habib Ashkan, Dastgheib Seyed Alireza, Tabei Seyed Mohammad Bagher, Molayemat Mohadeseh, Shirazi Yeganeh Babak
Abstract excerpt
HYOU1 encodes a protein from the endoplasmic reticulum chaperone proteins, expressed to protect cellular mechanisms from stress such as hypoxia, insufficient energy and excessive or insufficient substances, and to restore cell homeostasis. In this study, we report a novel pathogenic variant in HYOU1. The proband, the second patient with pathogenic variant in HYOU1, was a female born to consanguineous parents. A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.