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
来源：
CLINICAL IMMUNOLOGY | 2023年 / 250卷
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
  • [41] 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
  • [42] 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
  • [43] Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition
    Zuzana Parackova
    Petra Vrabcova
    Irena Zentsova
    Anna Sediva
    Marketa Bloomfield
    Journal of Clinical Immunology, 2023, 43 : 1640 - 1659
  • [44] Use of single cell DNA sequencing to characterize somatic mosaicism in a patient with two signal transduction and activator of transcription 1 (STAT1) gain-of-function variants
    Platt, Craig
    Banzon, Tina
    Burchett, Sandra
    Andrew, Wehrman
    Lee, Pui
    CLINICAL IMMUNOLOGY, 2023, 250
  • [45] Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation
    Sarfati, Eytan
    Hadjadj, Jerome
    Fusaro, Mathieu
    Klifa, Roman
    Grimaud, Marion
    Berteloot, Laureline
    Hadchouel, Alice
    Godot, Cecile
    Stolzenberg, Marie-Claude
    Fremond, Marie-Louise
    Pressiat, Claire
    Molina, Thierry
    Fischer, Alain
    Picard, Capucine
    Renolleau, Sylvain
    Rieux-Laucat, Frederic
    Blanche, Stephane
    Neven, Benedicte
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (04) : 807 - 810
  • [46] DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients
    Scott, Ori
    Dadi, Harjit
    Vong, Linda
    Pasternak, Yehonatan
    Garkaby, Jenny
    Pachul, Jessica Willett
    Mandola, Amarilla B.
    Brager, Rae
    Hostoffer, Robert
    Nahum, Amit
    Roifman, Chaim M.
    PEDIATRIC ALLERGY AND IMMUNOLOGY, 2022, 33 (01)
  • [47] Exome Sequencing Reveals Gain-of-Function Mutations in STAT1 Conferring Predisposition to Chronic Mucocutaneous Candidiasis in Six Colombian Patients
    Moncada-Velez, Marcela
    Victoria Erazo-Borras, Lucia
    Andres Arango-Franco, Carlos
    Armando Alvarez-Alvarez, Jesus
    Tsumura, Miyuki
    Okada, Satoshi
    Daniela Osorio, Sara
    Castro, Lorena
    Gonzalez, Natalia
    Arango, Catalina
    Riano, Lina
    Cesar Orrego, Julio
    Fernando Alzate, Juan
    Cabarcas, Felipe
    Casanova, Jean-Laurent
    Bustamante, Jacinta
    Puel, Anne
    Augusto Arias, Andres
    Luis Franco, Jose
    JOURNAL OF CLINICAL IMMUNOLOGY, 2017, 37 : S36 - S36
  • [48] Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility
    Parackova, Zuzana
    Zentsova, Irena
    Vrabcova, Petra
    Sediva, Anna
    Bloomfield, Marketa
    CLINICAL IMMUNOLOGY, 2023, 246
  • [49] Case Report: Novel STIM1 Gain-of-Function Mutation in a Patient With TAM/STRMK and Immunological Involvement
    de la Fuente-munoz, Eduardo
    van den Rym, Ana
    Garcia-Solis, Blanca
    Grullon, Juliana Ochoa
    Guevara-Hoyer, Kissy
    Fernandez-Arquero, Miguel
    Davila, Lucia Galan
    Matias-Guiu, Jorge
    Sanchez-Ramon, Silvia
    de Diego, Rebeca Perez
    FRONTIERS IN IMMUNOLOGY, 2022, 13
12345