A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Filipa Marujo; Simon J. Pelham; João Freixo; Ana Isabel Cordeiro; Catarina Martins; Jean Laurent Casanova; Wei Te Lei; Anne Puel; João Farela Neves

doi:10.1007/s10875-021-01026-2

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Filipa Marujo, Simon J. Pelham, João Freixo, Ana Isabel Cordeiro, Catarina Martins, Jean Laurent Casanova, Wei Te Lei, Anne Puel, João Farela Neves

Research output: Contribution to journal › Letter › peer-review

15 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1376 - 1379
Journal	Journal Of Clinical Immunology
Volume	41
Issue number	6
DOIs	https://doi.org/10.1007/s10875-021-01026-2
Publication status	Published - Aug 2021

Keywords

ACT1
Candida spp
chronic mucocutaneous candidiasis
IL-17
TRAF3IP2

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10.1007/s10875-021-01026-2

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title = "A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis",

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.",

keywords = "ACT1, Candida spp, chronic mucocutaneous candidiasis, IL-17, TRAF3IP2",

author = "Filipa Marujo and Pelham, {Simon J.} and Jo{\~a}o Freixo and Cordeiro, {Ana Isabel} and Catarina Martins and Casanova, {Jean Laurent} and Lei, {Wei Te} and Anne Puel and Neves, {Jo{\~a}o Farela}",

year = "2021",

month = aug,

doi = "10.1007/s10875-021-01026-2",

language = "English",

volume = "41",

pages = " 1376 -- 1379",

journal = "Journal Of Clinical Immunology",

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TY - JOUR

T1 - A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

AU - Marujo, Filipa

AU - Pelham, Simon J.

AU - Freixo, João

AU - Cordeiro, Ana Isabel

AU - Martins, Catarina

AU - Casanova, Jean Laurent

AU - Lei, Wei Te

AU - Puel, Anne

AU - Neves, João Farela

PY - 2021/8

Y1 - 2021/8

N2 - 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.

AB - 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.

KW - ACT1

KW - Candida spp

KW - chronic mucocutaneous candidiasis

KW - IL-17

KW - TRAF3IP2

UR - http://www.scopus.com/inward/record.url?scp=85103658629&partnerID=8YFLogxK

U2 - 10.1007/s10875-021-01026-2

DO - 10.1007/s10875-021-01026-2

M3 - Letter

C2 - 33825088

AN - SCOPUS:85103658629

SN - 0271-9142

VL - 41

SP - 1376

EP - 1379

JO - Journal Of Clinical Immunology

JF - Journal Of Clinical Immunology

IS - 6

ER -

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis

Abstract

Keywords

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