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
  • [41] Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors
    Borgstrom, Emilie W.
    Edvinsson, Marie
    Perez, Lucia P.
    Norlin, Anna C.
    Enoksson, Sara L.
    Hansen, Susanne
    Fasth, Anders
    Friman, Vanda
    Kampe, Olle
    Mansson, Robert
    Estupinan, Hernando Y.
    Qing Wang
    Tan Ziyang
    Lakshmikanth, Tadepally
    Smith, Carl Inge E.
    Brodin, Petter
    Bergman, Peter
    JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (01) : 136 - 150
  • [42] Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation
    Bloomfield, Marketa
    Kanderova, Veronika
    Parackova, Zuzana
    Vrabcova, Petra
    Svaton, Michael
    Fronkova, Eva
    Fejtkova, Martina
    Zachova, Radana
    Rataj, Michal
    Zentsova, Irena
    Milota, Tomas
    Klocperk, Adam
    Kalina, Tomas
    Sediva, Anna
    JOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (05) : 589 - 601
  • [43] STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis
    van de Veerdonk, Frank L.
    Plantinga, Theo S.
    Hoischen, Alexander
    Smeekens, Sanne P.
    Joosten, Leo A. B.
    Gilissen, Christian
    Arts, Peer
    Rosentul, Diana C.
    Carmichael, Andrew J.
    Smits-van der Graaf, Chantal A. A.
    Kullberg, Bart Jan
    van der Meer, Jos W. M.
    Lilic, Desa
    Veltman, Joris A.
    Netea, Mihai G.
    NEW ENGLAND JOURNAL OF MEDICINE, 2011, 365 (01): : 54 - 61
  • [44] 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
  • [45] STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult
    Andou, Miya
    Tominaga, Masaki
    Nishikomori, Ryuta
    Gotoh, Kenji
    Komatsu, Nobukazu
    Matsuoka, Masanobu
    Kawayama, Tomotaka
    Hoshino, Tomoaki
    INTERNAL MEDICINE, 2024, 63 (09) : 1269 - 1271
  • [46] Chronic mucocutaneous candidiasis with STAT1 mutation in early childhood
    Loegering, B. A.
    Weisenseel, P.
    Kunz, B.
    Hiller, J.
    Traidl-Hoffmann, C.
    Casanova, J. -L.
    Reich, K.
    JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT, 2014, 12 : 29 - 30
  • [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] 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
  • [49] Variable Presentations of Gain of Function STAT1 Mutations within a Single Institution with Features Beyond Chronic Mucocutaneous Candidiasis
    Bina, Sheila M.
    Yoon, Jenni Y.
    Leiding, Jennifer W.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2015, 135 (02) : AB186 - AB186
  • [50] Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation
    Moessner, Rotraut
    Diering, Nina
    Bader, Oliver
    Forkel, Susann
    Overbeck, Tobias
    Gross, Uwe
    Grimbacher, Bodo
    Schoen, Michael P.
    Buhl, Timo
    CLINICAL INFECTIOUS DISEASES, 2016, 62 (07)