Abstract
Inborn errors of the IL-17-mediated signaling have been associated with chronic mucocutaneous candidiasis (CMC). We describe a patient with CMC, atopic dermatitis, enamel dysplasia, and recurrent parotitis harboring a novel compound heterozygous mutation of TRAF3IP2, leading to autosomal recessive ACT1 deficiency and deficient IL-17 signaling.
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Acknowledgments
We would like to thank Bertrand Boisson. This work was supported by the French National Research Agency (ANR) under the “Investissement d’avenir” program (Grant Number ANR-10-IAHU-01), the “LTh-MSMD-CMCD” project (Grant ANR-18-CE93-0008-01), and the NIH (grant R01 AI127564-01). S.J.P is sponsored by a grant from the Shapiro-Silverberg Fund for the Advancement of Translational Research.
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FM, medical doctor of the patient, wrote the paper. SJP reviewed the paper. JF designed the research study and wrote the paper. AIC reviewed the paper. CM designed the research study. JLC designed the research study. WTL designed the research study. AP designed the research study and wrote the paper. JFN, medical doctor of the patient, designed the research study and wrote the paper.
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Marujo, F., Pelham, S.J., Freixo, J. et al. A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis. J Clin Immunol 41, 1376–1379 (2021). https://doi.org/10.1007/s10875-021-01026-2
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DOI: https://doi.org/10.1007/s10875-021-01026-2