Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasis

被引:0
|
作者
Depner, M. [1 ]
Wanders, J. [2 ]
Stauss, H. [2 ]
Jansson, A. [3 ]
Dueckers, G. [4 ]
Niehues, T. [5 ]
Baumann, U. [6 ]
Pedersen, A. Stray [7 ]
Kilic, S. S. [8 ]
Atkinson, T. P. [9 ]
Puck, J. M. [10 ]
Franco, J. L. [11 ]
Devlin, L. [12 ]
Jensen, T. D. [13 ]
Henderson, P. [14 ]
Matthijs, G. [15 ]
Ben Shoshan, M. [16 ]
McCusker, C. [17 ]
Jacob, C. M. [18 ]
Grimbacher, B. [1 ]
机构
[1] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany
[2] UCL, London, England
[3] Univ Munich, Munich, Germany
[4] HELIOS Childrens Hosp, Krefeld, Germany
[5] Univ Dusseldorf, D-40225 Dusseldorf, Germany
[6] Hanover Med Sch, Hanover, NH USA
[7] Univ Oslo, Rikshosp, Radiumhosp Med Ctr, N-0027 Oslo, Norway
[8] Uludag Univ, Fac Med, Bursa, Turkey
[9] Univ Alabama Birmingham, Birmingham, AL USA
[10] Univ Calif San Francisco, San Francisco, CA 94143 USA
[11] Univ Antioquia, Medellin, Colombia
[12] Royal Grp Hosp, Belfast, Antrim, North Ireland
[13] Aarhus Univ, Aarhus, Denmark
[14] Univ Edinburgh, Edinburgh, Midlothian, Scotland
[15] Univ Louvain, Louvain, Belgium
[16] Montreal Childrens Hosp, Montreal, PQ H3H 1P3, Canada
[17] McGill Univ, Meakins Christie Labs, Montreal, PQ, Canada
[18] Univ Sao Paulo, Fac Med, Sao Paulo, Brazil
关键词
D O I
暂无
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:319 / 319
页数:1
相关论文
共 50 条
  • [1] Identification of gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis
    Hiller, J.
    Eyerich, S.
    Eyerich, K.
    Schaller, M.
    Casanova, J.
    Cypowyj, S.
    Puel, A.
    Ring, J.
    Hofmann, H.
    Traidl-Hoffmann, C.
    [J]. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2012, 132 : S91 - S91
  • [2] Gain-of-function human STAT1 mutations in patients with chronic mucocutaneous candidiasis
    Hiller, J.
    Eyerich, S.
    Eyerich, K.
    Schaller, M.
    Casanova, J.
    Cypowyj, S.
    Puel, A.
    Ring, J.
    Behrendt, H.
    Schmidt-Weber, C. B.
    Hofmann, H.
    Traidl-Hoffmann, C.
    [J]. EXPERIMENTAL DERMATOLOGY, 2012, 21 (03) : e30 - e30
  • [3] 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
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2022, 42 (SUPPL 1) : S57 - S58
  • [4] STAT1 Gain-of-Function Mutation in Chronic Mucocutaneous Candidiasis
    Antoniadi, Marita
    Tzanoudaki, Marianna
    Karkanis, Vaggelis
    Kostaridou, Stavroula
    Tsagris, Vasileios
    [J]. INDIAN JOURNAL OF PEDIATRICS, 2024,
  • [5] GAIN-OF-FUNCTION MUTATIONS IN STAT1 UNDERLIE AUTOSOMAL DOMINANT CHRONIC MUCOCUTANEOUS CANDIDIASIS
    Okada, S.
    Kong, X-F.
    Cypowyj, S.
    Kreins, A.
    Liu, L.
    Abel, L.
    Picard, C.
    Boisson-Dupuis, S.
    Puel, A.
    Casanova, J-L.
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 92 - 93
  • [6] GAIN-OF-FUNCTION STAT1 MUTATIONS ALTER STAT3 ACTIVATION IN PATIENTS WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS
    Zheng, J.
    Rowan, A. D.
    Gennery, A. R.
    Abinun, M.
    Lilic, D.
    [J]. JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 203 - 203
  • [7] Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis
    Bloomfield, Marketa
    Zentsova, Irena
    Milota, Tomas
    Sediva, Anna
    Parackova, Zuzana
    [J]. FRONTIERS IN IMMUNOLOGY, 2022, 13
  • [8] Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1
    Carey, Barbara
    Lambourne, Jonathan
    Porter, Stephen
    Hodgson, Tim
    [J]. ORAL DISEASES, 2019, 25 (03) : 684 - 692
  • [9] New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
    Soltesz, Beata
    Toth, Beata
    Shabashova, Nadejda
    Bondarenko, Anastasia
    Okada, Satoshi
    Cypowyj, Sophie
    Abhyankar, Avinash
    Csorba, Gabriella
    Tasko, Szilvia
    Sarkadi, Adrien Katalin
    Mehes, Leonora
    Rozsival, Pavel
    Neumann, David
    Chernyshova, Liudmyla
    Tulassay, Zsolt
    Puel, Anne
    Casanova, Jean-Laurent
    Sediva, Anna
    Litzman, Jiri
    Marodi, Laszlo
    [J]. JOURNAL OF MEDICAL GENETICS, 2013, 50 (09) : 567 - 578
  • [10] Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC)
    Zheng, Jie
    de Veerdonk, Frank L. van
    Crossland, Katherine L.
    Smeekens, Sanne P.
    Chan, Chun M.
    Al Shehri, Tariq
    Abinun, Mario
    Gennery, Andrew R.
    Mann, Jelena
    Lendrem, Dennis W.
    Netea, Mihai G.
    Rowan, Andrew D.
    Lilic, Desa
    [J]. EUROPEAN JOURNAL OF IMMUNOLOGY, 2015, 45 (10) : 2834 - 2846