Literature DB >> 33825088

A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis.

Filipa Marujo1, Simon J Pelham2, Anne Puel2,3, João Farela Neves4,5, João Freixo6, Ana Isabel Cordeiro7, Catarina Martins8, Jean-Laurent Casanova2,3,9, Wei-Te Lei2,10,11.   

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.
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Entities:  

Keywords:  ACT1; Candida spp.; IL-17; TRAF3IP2; chronic mucocutaneous candidiasis

Mesh：

Substances：

Year:  2021        PMID： 33825088      PMCID： PMC8316359          DOI： 10.1007/s10875-021-01026-2

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.542


  10 in total

1.  A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans.

Authors:  Georges Nemer; Nehme El-Hachem; Edward Eid; Lamiaa Hamie; Tara Bardawil; Samar Khalil; Inaam El-Rassy; Remi Safi; Athar Khalil; Ossama Abbas; Yutaka Shimomura; Mazen Kurban
Journal:  Clin Genet       Date:  2020-06-29       Impact factor: 4.438

Review 2.  Act1 modulates autoimmunity through its dual functions in CD40L/BAFF and IL-17 signaling.

Authors:  Xiaoxia Li
Journal:  Cytokine       Date:  2007-12-03       Impact factor: 3.861

Review 3.  Functional specialization of interleukin-17 family members.

Authors:  Yoichiro Iwakura; Harumichi Ishigame; Shinobu Saijo; Susumu Nakae
Journal:  Immunity       Date:  2011-02-25       Impact factor: 31.745

4.  Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2.

Authors:  Sagar Bhattad; Chitra Dinakar; Haneesha Pinnamaraju; Aparna Ganapathy; Ashraf Mannan
Journal:  J Clin Immunol       Date:  2019-07-10       Impact factor: 8.317

Review 5.  Targeting IL-17 and TH17 cells in chronic inflammation.

Authors:  Pierre Miossec; Jay K Kolls
Journal:  Nat Rev Drug Discov       Date:  2012-10       Impact factor: 84.694

Review 6.  Human inborn errors of immunity underlying superficial or invasive candidiasis.

Authors:  Anne Puel
Journal:  Hum Genet       Date:  2020-03-02       Impact factor: 4.132

7.  Deficiency of Act1, a critical modulator of B cell function, leads to development of Sjögren's syndrome.

Authors:  Youcun Qian; Natalia Giltiay; Jianhua Xiao; Yue Wang; Jun Tian; Shuhua Han; Martin Scott; Robert Carter; Trine N Jorgensen; Xiaoxia Li
Journal:  Eur J Immunol       Date:  2008-08       Impact factor: 5.532

8.  An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Authors:  Bertrand Boisson; Chenhui Wang; Vincent Pedergnana; Ling Wu; Sophie Cypowyj; Michel Rybojad; Aziz Belkadi; Capucine Picard; Laurent Abel; Claire Fieschi; Anne Puel; Xiaoxia Li; Jean-Laurent Casanova
Journal:  Immunity       Date:  2013-10-10       Impact factor: 31.745

9.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Authors:  Luyan Liu; Satoshi Okada; Xiao-Fei Kong; Alexandra Y Kreins; Sophie Cypowyj; Avinash Abhyankar; Julie Toubiana; Yuval Itan; Magali Audry; Patrick Nitschke; Cécile Masson; Beata Toth; Jérome Flatot; Mélanie Migaud; Maya Chrabieh; Tatiana Kochetkov; Alexandre Bolze; Alessandro Borghesi; Antoine Toulon; Julia Hiller; Stefanie Eyerich; Kilian Eyerich; Vera Gulácsy; Ludmyla Chernyshova; Viktor Chernyshov; Anastasia Bondarenko; Rosa María Cortés Grimaldo; Lizbeth Blancas-Galicia; Ileana Maria Madrigal Beas; Joachim Roesler; Klaus Magdorf; Dan Engelhard; Caroline Thumerelle; Pierre-Régis Burgel; Miriam Hoernes; Barbara Drexel; Reinhard Seger; Theresia Kusuma; Annette F Jansson; Julie Sawalle-Belohradsky; Bernd Belohradsky; Emmanuelle Jouanguy; Jacinta Bustamante; Mélanie Bué; Nathan Karin; Gizi Wildbaum; Christine Bodemer; Olivier Lortholary; Alain Fischer; Stéphane Blanche; Saleh Al-Muhsen; Janine Reichenbach; Masao Kobayashi; Francisco Espinosa Rosales; Carlos Torres Lozano; Sara Sebnem Kilic; Matias Oleastro; Amos Etzioni; Claudia Traidl-Hoffmann; Ellen D Renner; Laurent Abel; Capucine Picard; László Maródi; Stéphanie Boisson-Dupuis; Anne Puel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2011-07-04       Impact factor: 14.307

10.  Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency.

Authors:  Samantha Shafer; Yikun Yao; William Comrie; Sarah Cook; Yu Zhang; Gözde Yesil; Elif Karakoç-Aydiner; Safa Baris; Haluk Cokugras; Sezin Aydemir; Ayca Kiykim; Ahmet Ozen; Michael Lenardo
Journal:  J Allergy Clin Immunol       Date:  2021-01-22       Impact factor: 14.290
  10 in total

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