{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Marujo F"],"funding":["NIAID NIH HHS"],"pagination":["1376-1379"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8316359"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["41(6)"],"pubmed_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."],"journal":["Journal of clinical immunology"],"pubmed_title":["A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis."],"pmcid":["PMC8316359"],"funding_grant_id":["R01 AI127564"],"pubmed_authors":["Freixo J","Martins C","Pelham SJ","Lei WT","Marujo F","Cordeiro AI","Casanova JL","Puel A","Neves JF"],"additional_accession":[]},"is_claimable":false,"name":"A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.","description":"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.","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2025-04-26T16:30:18.731Z","creation":"2025-04-06T15:12:09.863Z"},"accession":"S-EPMC8316359","cross_references":{"pubmed":["33825088"],"doi":["10.1007/s10875-021-01026-2"]}}