Chronic mucocutaneous candidiasis and immune dysregulation due to STAT1 Gain of Function

被引:0
|
作者
Hauk, Stacey [1 ]
Hannett, Katrina [1 ]
Fowler, Shannon [1 ]
McGoey, Barbara [1 ]
Ravell, Juan [2 ]
机构
[1] Hackensack Univ, Med Ctr, Hackensack, NJ USA
[2] Hackensack Univ, Med Ctr, Div Chief Allergy & Immunol, Hackensack, NJ USA
关键词
STAT1; Chronic mucocutaneous candidiasis; Gain of Function; Mutations;
D O I
10.1016/j.clim.2023.109585
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
240
引用
收藏
页码:141 / 141
页数:1
相关论文
共 50 条
  • [1] Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1
    Carey, Barbara
    Lambourne, Jonathan
    Porter, Stephen
    Hodgson, Tim
    ORAL DISEASES, 2019, 25 (03) : 684 - 692
  • [2] The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
    Mark Depner
    Sebastian Fuchs
    Jan Raabe
    Natalie Frede
    Cristina Glocker
    Rainer Doffinger
    Effrossyni Gkrania-Klotsas
    Dinakantha Kumararatne
    T. Prescott Atkinson
    Harry W. Schroeder
    Tim Niehues
    Gregor Dückers
    Asbjørg Stray-Pedersen
    Ulrich Baumann
    Reinhold Schmidt
    Jose L. Franco
    Julio Orrego
    Moshe Ben-Shoshan
    Christine McCusker
    Cristina Miuki Abe Jacob
    Magda Carneiro-Sampaio
    Lisa A. Devlin
    J. David M. Edgar
    Paul Henderson
    Richard K. Russell
    Anne-Bine Skytte
    Suranjith L. Seneviratne
    Jennifer Wanders
    Hans Stauss
    Isabelle Meyts
    Leen Moens
    Milos Jesenak
    Robin Kobbe
    Stephan Borte
    Michael Borte
    Dowain A. Wright
    David Hagin
    Troy R. Torgerson
    Bodo Grimbacher
    Journal of Clinical Immunology, 2016, 36 : 73 - 84
  • [3] The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
    Depner, Mark
    Fuchs, Sebastian
    Raabe, Jan
    Frede, Natalie
    Glocker, Cristina
    Doffinger, Rainer
    Gkrania-Klotsas, Effrossyni
    Kumararatne, Dinakantha
    Atkinson, T. Prescott
    Schroeder, Harry W., Jr.
    Niehues, Tim
    Dueckers, Gregor
    Stray-Pedersen, Asbjorg
    Baumann, Ulrich
    Schmidt, Reinhold
    Franco, Jose L.
    Orrego, Julio
    Ben-Shoshan, Moshe
    McCusker, Christine
    Jacob, Cristina Miuki Abe
    Carneiro-Sampaio, Magda
    Devlin, Lisa A.
    Edgar, J. David M.
    Henderson, Paul
    Russell, Richard K.
    Skytte, Anne-Bine
    Seneviratne, Suranjith L.
    Wanders, Jennifer
    Stauss, Hans
    Meyts, Isabelle
    Moens, Leen
    Jesenak, Milos
    Kobbe, Robin
    Borte, Stephan
    Borte, Michael
    Wright, Dowain A.
    Hagin, David
    Torgerson, Troy R.
    Grimbacher, Bodo
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (01) : 73 - 84
  • [4] Chronic Mucocutaneous Candidiasis Due to STAT1 Gene Variant
    Jing, Danrui
    Liang, Guanzhao
    Li, Xiaofang
    JAMA DERMATOLOGY, 2024, 160 (05) : 565 - 566
  • [5] STAT1 Gain-of-Function Variant as a Cause of Chronic Mucocutaneous Candidiasis and Steatorrhea
    Scanlon, Nicholas
    Dilley, Michelle
    Woo, Wonhee
    Collins, Cathleen
    Laubach, Susan
    Geng, Bob
    Leibel, Sydney
    Land, Michael
    JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S57 - S58
  • [6] Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis
    Mizoguchi, Yoko
    Tsumura, Miyuki
    Okada, Satoshi
    Hirata, Osamu
    Minegishi, Shizuko
    Imai, Kohsuke
    Hyakuna, Nobuyuki
    Muramatsu, Hideki
    Kojima, Seiji
    Ozaki, Yusuke
    Imai, Takehide
    Takeda, Sachiyo
    Okazaki, Tetsuya
    Ito, Tsuyoshi
    Yasunaga, Shin'ichiro
    Takihara, Yoshihiro
    Bryant, Vanessa L.
    Kong, Xiao-Fei
    Cypowyj, Sophie
    Boisson-Dupuis, Stephanie
    Puel, Anne
    Casanova, Jean-Laurent
    Morio, Tomohiro
    Kobayashi, Masao
    JOURNAL OF LEUKOCYTE BIOLOGY, 2014, 95 (04) : 667 - 676
  • [7] Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation
    Luo, Mingfen
    Huang, Huan
    Nie, Hanhui
    Liu, Yinghui
    Chen, Yangxia
    Zheng, Fuying
    Xi, Liyan
    Liu, Hongfang
    MYCOPATHOLOGIA, 2025, 190 (01)
  • [8] Chronic Mucocutaneous Candidiasis and Type 1 Diabetes in a Child with STAT1 Gain of Function Heterozygous Mutation
    Pires, J. V. G.
    Rodrigues, R.
    Segundo, G. R.
    Gomes, D. C.
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 92 : 37 - 37
  • [9] Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
    Satoshi Okada
    Takaki Asano
    Kunihiko Moriya
    Stephanie Boisson-Dupuis
    Masao Kobayashi
    Jean-Laurent Casanova
    Anne Puel
    Journal of Clinical Immunology, 2020, 40 : 1065 - 1081
  • [10] A GAIN-OF-FUNCTION MUTATION OF STAT1: A NOVEL GENETIC FACTOR CONTRIBUTING TO CHRONIC MUCOCUTANEOUS CANDIDIASIS
    Eslami, Narges
    Tavakol, Marzieh
    Mesdaghi, Mehrnaz
    Gharegozlou, Mohammad
    Casanova, Jean-Laurent
    Puel, Anne
    Okada, Satoshi
    Arshi, Saba
    Bemanian, Mohammad Hassan
    Fallahpour, Morteza
    Molatefi, Rasool
    Seif, Farhad
    Zoghi, Samaneh
    Rezaei, Nima
    Nabavi, Mohammad
    ACTA MICROBIOLOGICA ET IMMUNOLOGICA HUNGARICA, 2017, 64 (02) : 191 - 201