NFKB pathway mutations in the Iranian cohort
Rattachement africain : ir. Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
Background: Investigating and documenting novel mutations within inborn errors of immunity (IEIs) has demonstrably enriched our comprehension of disease causation. This encompasses elucidating the clinical and immunological presentations linked to specific gene alterations, ultimately leading to refined classification precision and, optimistically, improved treatment modalities. The present study aims to the profiles of patients within the Iranian IEI registry exhibiting mutations within the NFKB signaling pathway. Methods : Peripheral blood mononuclear cells were utilized for immunophenotyping of B and T lymphocyte subsets, and proliferation assays. Immunoblotting was employed to assess the expression levels of the corresponding protein in each patient harboring the respective variant. Results : The study cohort encompassed 17 patients: 8 with NFKB1 mutations, 5 with NFKB2 mutations, 3 with IKBKB mutations, and 1 with an IKBKG mutation. All NFKB1 and NFKB2 mutations presented as heterozygous, whereas IKBKB mutations were homozygous and the IKBKG mutation was hemizygous. The predominant clinical features included hypogammaglobulinemia and B cell subset disturbances, with T cell subsets and proliferation being normal in most, though not all, cases. Protein expression in patients generally mirrored healthy controls, except for two individuals harboring NFKB2 mutations. Conclusions : These findings provide novel IEI cases linked to NFKB pathway mutations. Comprehensive evaluation and functional analysis of novel mutations, confirming potential impacts on disease manifestation, also highlight the need for specialized care and further research within immunodeficiency disorders.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- NFKB pathway mutations in the Iranian cohort
- Date Crossref
- 15/07/2024
- Éditeur
- Wiley
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Imam Khomeini Hospital pays non établi dans la noticeÉtablissement de santé
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Kerman University of Medical Sciences pays non établi dans la noticeUniversité ou école supérieure
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Shahid Sadoughi University of Medical Sciences and Health Services pays non établi dans la noticeUniversité ou école supérieure
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Masih Daneshvari Hospital pays non établi dans la noticeÉtablissement de santé
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Children's Medical Center pays non établi dans la noticeÉtablissement de santé
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National Research Institute of Tuberculosis and Lung Diseases (NRITLD pays non établi dans la noticeStructure de recherche
Imam Khomeini Hospital, Kerman University of Medical Sciences et Shahid Sadoughi University of Medical Sciences and Health Services, avec 3 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.