Article ; Online: Novel genetic variants of inborn errors of immunity.
PloS one
2021 Volume 16, Issue 1, Page(s) e0245888
Abstract: Objectives: Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary ... ...
| Abstract | Objectives: Inborn errors of immunity (IEI) are prevalent in tribal cultures due to frequent consanguineous marriages. Many of these disorders are autosomal recessive, resulting from founder mutations; hence they are amenable to prevention. The primary objective of this study was to evaluate the pathogenicity of novel variants of IEI found among Emiratis. Methods: This retrospective data collection study reports novel variants of IEI detected by diagnostic exome sequencing. Pathogenicity prediction was based on scoring tools, amino acid alignment, and Jensen-Shannon divergence values. Results: Twenty-one novel variants were identified; nine were frameshift, three nonsense, four intronic (one pathogenic), and five missense (two pathogenic). Fifteen variants were likely pathogenic, of which 13 were autosomal recessive and two uncertain inheritance. Their clinical spectra included combined immunodeficiency, antibody deficiency, immune dysregulation, defects in intrinsic/innate immunity, and bone marrow failure. Conclusion: The described novel pathogenic variants are core to a planned national screening program that aims toward IEI prevention. Future studies, however, are needed to confirm their natural history in individual patients and estimate their prevalence in the community. |
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| MeSH term(s) | Animals ; Bone Marrow Failure Disorders/genetics ; Computational Biology ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/immunology ; Genetic Variation ; Herpesvirus 4, Human/physiology ; Humans ; Immunity, Innate/genetics ; Lymphohistiocytosis, Hemophagocytic/genetics ; Retrospective Studies |
| Language | English |
| Publishing date | 2021-01-22 |
| Publishing country | United States |
| Document type | Journal Article |
| ISSN | 1932-6203 |
| ISSN (online) | 1932-6203 |
| DOI | 10.1371/journal.pone.0245888 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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