Development of warm autoimmune hemolytic anemia after initiation of Ruxolitinib in a patient with STAT1 gain-of-function mutation

被引:1
|
作者
Hartono, Stella [1 ]
Agharahimi, Anahita [2 ]
Tauk, Silpa [3 ]
Bosticardo, Marita [2 ]
Mangat, Mona [4 ]
Pfister, Justina [5 ]
Notarangelo, Luigi [6 ]
Leiding, Jennifer [7 ]
Freeman, Alexandra [6 ]
机构
[1] NIAID, Bethesda, MD USA
[2] NIH, Bethesda, MD USA
[3] Univ S Florida, Tampa, FL USA
[4] Bay Area Allergy & Asthma, Allergy Immunol, Berkeley, CA USA
[5] NIAID, Primary Immunodeficiency Clin, Bethesda, MD USA
[6] NIAID, NIH, Bethesda, MD USA
[7] Johns Hopkins South Florida, St Petersburg, FL USA
关键词
STAT1; gain-of-function; Ruxolitinib; Autoimmune hemolytic anemia; Sirolimus;
D O I
10.1016/j.clim.2023.109413
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
66
引用
收藏
页码:29 / 29
页数:1
相关论文
共 49 条
  • [21] Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
    Vargas-Hernandez, Alexander
    Mace, Emily M.
    Zimmerman, Ofer
    Zerbe, Christa S.
    Freeman, Alexandra F.
    Rosenzweig, Sergio
    Leiding, Jennifer W.
    Torgerson, Troy
    Altman, Matthew C.
    Schussler, Edith
    Cunningham-Rundles, Charlotte
    Chinn, Ivan K.
    Carisey, Alexandre F.
    Hanson, Imelda C.
    Rider, Nicholas L.
    Holland, Steven M.
    Orange, Jordan S.
    Forbes, Lisa R.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 141 (06) : 2142 - +
  • [22] Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
    Weinacht, Katja G.
    Charbonnier, Louis-Marie
    Alroqi, Fayhan
    Plant, Ashley
    Qiao, Qi
    Wu, Hao
    Ma, Clement
    Torgerson, Troy R.
    Rosenzweig, Sergio D.
    Fleisher, Thomas A.
    Notarangelo, Luigi D.
    Hanson, Imelda C.
    Forbes, Lisa R.
    Chatila, Talal A.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 139 (05) : 1629 - +
  • [23] Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype
    Giovannozzi, Simone
    Lemmens, Veerle
    Hendrix, Jelle
    Gijsbers, Rik
    Schrijvers, Rik
    FRONTIERS IN IMMUNOLOGY, 2020, 11
  • [24] 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
  • [25] Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function
    Aidé Tamara Staines-Boone
    Pandiarajan Vignesh
    Miyuki Tsumura
    Germán de la Garza Fernández
    Reva Tyagi
    Amit Rawat
    Jhumki Das
    Dan Tomomasa
    Takaki Asano
    Atsushi Hijikata
    Yuridia Salazar-Gálvez
    Hirokazu Kanegane
    Satoshi Okada
    Saul O Lugo Reyes
    Journal of Clinical Immunology, 2024, 44
  • [26] Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1
    Asano, Takaki
    Utsumi, Takanori
    Kagawa, Reiko
    Karakawa, Shuhei
    Okada, Satoshi
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2023, 212 (02) : 96 - 106
  • [27] Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function
    Staines-Boone, Aide Tamara
    Vignesh, Pandiarajan
    Tsumura, Miyuki
    de la Garza Fernandez, German
    Tyagi, Reva
    Rawat, Amit
    Das, Jhumki
    Tomomasa, Dan
    Asano, Takaki
    Hijikata, Atsushi
    Salazar-Galvez, Yuridia
    Kanegane, Hirokazu
    Okada, Satoshi
    Reyes, Saul O. Lugo
    JOURNAL OF CLINICAL IMMUNOLOGY, 2024, 44 (01)
  • [28] Chronic oral mucocutaneous candidiasis, recurrent respiratory infection, hepatosplenomegaly, and autoimmune diabetes mellitus: A case report of a gain-of-function mutation of STAT1 in a Chinese boy
    Cao, Bingyan
    Liu, Meijuan
    Zhao, Yun
    Gong, Chunxiu
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [29] STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection
    Gonzalez-Mancera, Miguel S.
    Johnson, Britt
    Mirsaeidi, Mehdi
    RESPIRATORY MEDICINE CASE REPORTS, 2020, 30
  • [30] Case report: A STAT1 gain-of-function mutation causes a syndrome of combined immunodeficiency, autoimmunity and pure red cell aplasia
    Xie, Yifan
    Shao, Fenli
    Lei, Juan
    Huang, Na
    Fan, Zhidan
    Yu, Haiguo
    FRONTIERS IN IMMUNOLOGY, 2022, 13