STAT1 Gain-of-Function Mutation in Chronic Mucocutaneous Candidiasis

被引:0
|
作者
Antoniadi, Marita [1 ]
Tzanoudaki, Marianna [2 ]
Karkanis, Vaggelis [1 ]
Kostaridou, Stavroula [1 ]
Tsagris, Vasileios [1 ]
机构
[1] Penteli Childrens Hosp, Dept Pediat, Athens, Greece
[2] Agia Sophia Childrens Hosp, Lab Immunol & Histocompatibil, Athens, Greece
来源
INDIAN JOURNAL OF PEDIATRICS | 2024年 / 91卷 / 12期
关键词
UNDERLIE;
D O I
10.1007/s12098-024-05248-1
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1312 / 1312
页数:1
相关论文
共 50 条
  • [41] Chronic mucocutaneous candidiasis and immune dysregulation due to STAT1 Gain of Function
    Hauk, Stacey
    Hannett, Katrina
    Fowler, Shannon
    McGoey, Barbara
    Ravell, Juan
    CLINICAL IMMUNOLOGY, 2023, 250 : 141 - 141
  • [42] Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis
    Haake, Kathrin
    Wuestefeld, Tim
    Merkert, Sylvia
    Luettge, Doreen
    Goehring, Gudrun
    Auberd, Bernd
    Baumann, Ulrich
    Lachmann, Nico
    STEM CELL RESEARCH, 2020, 43
  • [43] A GAIN-OF-FUNCTION MUTATION OF STAT1 IN A 3-YEAR-OLD CHILD WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS AND AUTOIMMUNE HEPATITIS: A CASE REPORT
    Gave, Thais
    Machado Fernandes, Maria Ines
    Oliveira Filho, Joao Bosco
    Roxo-Junior, Persio
    JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (03) : 319 - 320
  • [44] 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
  • [45] 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
  • [46] The Extended Clinical Phenotype of 36 Patients with Chronic Mucocutaneous Candidiasis Due to Gain-of-Function Mutations in STAT1
    Frede, N.
    Depner, M.
    Raabe, J.
    Doffinger, R.
    Gkrania-Klotsas, E.
    Kumararatne, D.
    Atkinson, T. P.
    Schroeder, H. W.
    Niehues, T.
    Dueckers, G.
    Puck, J.
    Eisenstein, E. M.
    Stray-Pedersen, A.
    Baumann, U.
    Schmidt, R. E.
    Franco, J. L.
    Orrego, J. C.
    Ben-Shoshan, M.
    McCusker, C.
    Jacob, C. M.
    Carneiro-Sampaio, M.
    Devlin, L. A.
    Edgar, J. D.
    Henderson, P.
    Dyrso, T.
    Seneviratne, S. L.
    Wanders, J.
    Stauss, H.
    Meyts, I.
    Moens, L.
    Jesenak, M.
    Grimbacher, B.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S339 - S340
  • [47] PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY (PML) AND INTERMITTENT NEUTROPENIA IN A PATIENT WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS (CMC) DUE TO STAT1 GAIN-OF-FUNCTION MUTATION
    Santos, C. B.
    Hsu, A. P.
    Holland, S. M.
    Katial, R. K.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2013, 111 (05) : A87 - A87
  • [48] The potential role for topical imiquimod in the treatment of chronic mucocutaneous candidiasis caused by gain-of-function mutation in STAT1: A case-report
    Reis, Joel
    van de Veerdonk, Frank L.
    Carvalho, Agostinho
    Fernandes, Alexandre
    Machado, Susana
    DERMATOLOGIC THERAPY, 2021, 34 (05)
  • [49] Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation
    Higgins, Eleanor
    Al Shehri, Tariq
    McAleer, Maeve A.
    Conlon, Niall
    Feighery, Conleth
    Lilic, Desa
    Irvine, Alan D.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (02) : 551 - U356
  • [50] Chronic mucocutaneous Candidiasis with proof of STAT1 Mutation in Childhood
    Loegering, B. A.
    Weisenseel, P.
    Kunz, B.
    Hiller, J.
    Traidl-Hoffmann, C.
    Casanova, J-L
    Reich, K.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2013, 11 : 150 - 150