Rosacea and demodicidosis associated with gain-of-function mutation in STAT1

被引：19
|
作者：
Second, J. [1 ]
Korganow, A. -S. [2 ]
Jannier, S. [3 ]
Puel, A. [4 ]
Lipsker, D. [1 ]
机构：
[1] Hop Univ Strasbourg, Dept Dermatol, Strasbourg, France
[2] Hop Univ Strasbourg, Dept Clin Immunol & Internal Med, Natl Reference Ctr Autoimmune Dis, Strasbourg, France
[3] Hop Univ Strasbourg, Paediat Oncohaematol Unit, Strasbourg, France
[4] INSERM, U1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France
来源：
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY | 2017年 / 31卷 / 12期
关键词：
CHRONIC MUCOCUTANEOUS CANDIDIASIS; IL-17; IMMUNITY; UNDERLIE; DISEASE; CELLS;
D O I：
10.1111/jdv.14413
中图分类号：
R75 [皮肤病学与性病学];
学科分类号：
100206 ;
摘要：
引用
收藏
页码：E542 / E544
页数：3
相关论文
共 50 条
  • [1] Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation
    Saez-de-Ocariz, M.
    Suarez-Gutierrez, M.
    Migaud, M.
    O'Farrill-Romanillos
    Casanova, J. L.
    Segura-Mendez, N. H.
    Orozco-Covarrubias, L.
    Espinosa-Padilla, S. E.
    Puel, A.
    Blancas-Galicia, L.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2020, 34 (06) : E265 - E267
  • [2] ANTIBODY NEGATIVE HYPOTHYROIDISM ASSOCIATED WITH GAIN-OF-FUNCTION STAT1 MUTATION
    Kadakia, Sejal
    Leonard, Stephanie
    Hagood, James
    Newfield, Ron S.
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 578 - 579
  • [3] Gain-of-function STAT1 mutation and visceral leishmaniasis
    Lyra, Paula Teixeira
    Augusto Moura Falcao, Ana Carla
    Cruz, Rafael Amora
    Campos Coelho, Antonio Victor
    Souza, Edvaldo da Silva
    Arraes de Alencar, Luiz Claudio
    Oliveira, Joao Bosco
    EINSTEIN-SAO PAULO, 2022, 20 : eRC0048
  • [4] STAT1 Gain-of-Function Mutation in Chronic Mucocutaneous Candidiasis
    Antoniadi, Marita
    Tzanoudaki, Marianna
    Karkanis, Vaggelis
    Kostaridou, Stavroula
    Tsagris, Vasileios
    INDIAN JOURNAL OF PEDIATRICS, 2024, 91 (12): : 1312 - 1312
  • [5] Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation
    Smyth, Anna E.
    Kaleviste, Epp
    Snow, Aisling
    Kisand, Kai
    McMahon, Colin J.
    Cant, Andrew J.
    Leahy, T. Ronan
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (04) : 468 - 470
  • [6] Novel STAT1 gain-of-function mutation and suppurative infections
    Giardino, Giuliana
    Somma, Domenico
    Cirillo, Emilia
    Ruggiero, Giuseppina
    Terrazzano, Giuseppe
    Rubino, Valentina
    Ursini, Matilde Valeria
    Vairo, Donatella
    Badolato, Raffaele
    Carsetti, Rita
    Leonardi, Antonio
    Puel, Anne
    Pignata, Claudio
    PEDIATRIC ALLERGY AND IMMUNOLOGY, 2016, 27 (02) : 220 - 223
  • [7] Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation
    Anna E. Smyth
    Epp Kaleviste
    Aisling Snow
    Kai Kisand
    Colin J. McMahon
    Andrew J. Cant
    T. Ronan Leahy
    Journal of Clinical Immunology, 2018, 38 : 468 - 470
  • [8] Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash
    Bouchra Baghad
    Fatima Zahra El Fatoiki
    Ibtihal Benhsaien
    Ahmed Aziz Bousfiha
    Anne Puel
    Mélanie Migaud
    Soumiya Chiheb
    Fatima Ailal
    Journal of Clinical Immunology, 2021, 41 : 698 - 700
  • [9] Pediatric Demodicosis Associated with Gain-of-Function Variant in STAT1 Presenting as Rosacea-Type Rash
    Baghad, Bouchra
    El Fatoiki, Fatima Zahra
    Benhsaien, Ibtihal
    Bousfiha, Ahmed Aziz
    Puel, Anne
    Migaud, Melanie
    Chiheb, Soumiya
    Ailal, Fatima
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (03) : 698 - 700
  • [10] Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency
    Stella P. Hartono
    Alexander Vargas-Hernández
    Mark J. Ponsford
    Ivan K. Chinn
    Stephen Jolles
    Keith Wilson
    Lisa R. Forbes
    Journal of Clinical Immunology, 2018, 38 : 753 - 756
12345