2023
DOI: 10.1007/s10875-023-01547-y
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Immunologic and Genetic Contributors to CD46-Dependent Immune Dysregulation

Abstract: Mutations in CD46 predispose to atypical hemolytic uremic syndrome (aHUS) with low penetrance. Factors driving immune-dysregulatory disease in individual mutation carriers have remained ill-understood. In addition to its role as a negative regulator of the complement system, CD46 modifies T cell-intrinsic metabolic adaptation and cytokine production. Comparative immunologic analysis of diseased vs. healthy CD46 mutation carriers has not been performed in detail yet. In this study, we comprehensively analyzed c… Show more

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Cited by 6 publications
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“…Whole exome sequencing data did not reveal additional disease-causing mutations in genes linked to IEI as listed in the most recent report by the International Union of Immunology Societies expert group [ 1 ]. We, however, cannot exclude that additional rare variants in IEI genes may have contributed to the clinical phenotype [ 21 ].
Fig.
…”
Section: Resultsmentioning
confidence: 99%
“…Whole exome sequencing data did not reveal additional disease-causing mutations in genes linked to IEI as listed in the most recent report by the International Union of Immunology Societies expert group [ 1 ]. We, however, cannot exclude that additional rare variants in IEI genes may have contributed to the clinical phenotype [ 21 ].
Fig.
…”
Section: Resultsmentioning
confidence: 99%