A NOVEL TRAF3IP2 MUTATION CAUSING CHRONIC MUCOCUTANEOUS CANDIDIASIS

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 A...

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Bibliografiske detaljer
Udgivet i:J Clin Immunol
Main Authors: Marujo, Filipa, Pelham, Simon J, Freixo, João, Cordeiro, Ana Isabel, Martins, Catarina, Casanova, Jean-Laurent, Lei, Wei-Te, Puel, Anne, Neves, João Farela
Format: Artigo
Sprog:Inglês
Udgivet: 2021
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8316359/
https://ncbi.nlm.nih.gov/pubmed/33825088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10875-021-01026-2
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