The Origin of First Reported Cases of Primary Immunodeficiency Diseases

Articles in Press

Document Type : Review

Authors

1 Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran

2 Department of Medical Genetics, School of Medicine, Tehran University of medical sciences, Tehran, Iran

10.22034/igj.2021.261087.1055

Abstract

Background: Inborn Errors of Immunity (IEI) or primary immunodeficiency disorders (PID) are heterogeneous diseases with a defect in components of immune system. We have provided information about the consanguinity and origin of over 400 patients with reported for the first time.
Methods: To study the genes, we used the classification tables provided by IUIS (the International Union of Immunological Societies) in 2020 that documents the key clinical and laboratory features of more than 400 inborn errors of immunity.
Results: We have identified the national origin of 301 cases with known gene, while national origin information of 90 other genes (90 cases) is was incomplete in order to the unavailability of the first case reported or not mentioning patients' origin in the article publications of the first report. Among the 301 genes, Asia has the largest geographical dispersion with 103 reported cases. We found that 101 first case reports were identified in more than one patient regardless of geographical areas. Our survey demonstrated that out of 165 first report cases with genetic defects and consanguineous marriage, 112 cases identified in Asia.
Conclusions: This report provides valuable information on the geographical data and the prevalence of various genetic disorders worldwide. Also, by providing information related to parental consanguinity about the first reported cases with a genetic defect, valuable information about inborn errors of immunity, will be provided to researchers that can be used effectively in future studies.

Keywords

Immunology and Genetics Journal

Articles in Press, Accepted Manuscript
Available Online from 05 January 2021

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