Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis

被引:43
|
作者
Kumar, Nilay [1 ]
Hanks, Mary E. [3 ]
Chandrasekaran, Prabha [3 ]
Davis, Brian C. [1 ]
Hsu, Amy P. [3 ]
Van Wagoner, Nicholas J. [2 ]
Merlin, Jessica S. [2 ]
Spalding, Christine [3 ]
La Hoz, Ricardo M. [4 ]
Holland, Steven M. [3 ]
Zerbe, Christa S. [3 ]
Sampaio, Elizabeth P. [3 ]
机构
[1] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA
[2] Univ Alabama Birmingham, Dept Med, Div Infect Dis, Birmingham, AL 35294 USA
[3] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA
[4] Wake Forest Univ, Bowman Gray Sch Med, Dept Med, Infect Dis Sect, Winston Salem, NC 27103 USA
关键词
CHRONIC MUCOCUTANEOUS CANDIDIASIS; CHILDREN;
D O I
10.1016/j.jaci.2014.02.037
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
[No abstract available]
引用
收藏
页码:236 / 239
页数:8
相关论文
共 50 条
  • [1] Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis
    Sampaio, Elizabeth P.
    Hsu, Amy P.
    Pechacek, Joseph
    Bax, Hannelore I.
    Dias, Dalton L.
    Paulson, Michelle L.
    Chandrasekaran, Prabha
    Rosen, Lindsey B.
    Carvalho, Daniel S.
    Ding, Li
    Vinh, Donald C.
    Browne, Sarah K.
    Datta, Shrimati
    Milner, Joshua D.
    Kuhns, Douglas B.
    Priel, Debra A. Long
    Sadat, Mohammed A.
    Shiloh, Michael
    De Marco, Brendan
    Alvares, Michael
    Gillman, Jason W.
    Ramarathnam, Vivek
    de la Morena, Maite
    Bezrodnik, Liliana
    Moreira, Ileana
    Uzel, Gulbu
    Johnson, Daniel
    Spalding, Christine
    Zerbe, Christa S.
    Wiley, Henry
    Greenberg, David E.
    Hoover, Susan E.
    Rosenzweig, Sergio D.
    Galgiani, John N.
    Holland, Steven M.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2013, 131 (06) : 1624 - +
  • [2] Baricitinib treatment in a patient with a gain-of-function mutation in signal transducer and activator of transcription 1 (STAT1)
    Meesilpavikkai, Kornvalee
    Dik, Willem A.
    Schrijver, Benjamin
    Nagtzaam, Nicole M. A.
    Posthumus-van Sluijs, Sandra J.
    van Hagen, P. Martin
    Dalm, Virgil A. S. H.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 142 (01) : 328 - 330
  • [3] Jakinibs: A Bridge to Immune Reconstitution in Gain-Of-Function Signal Transducer and Activator of Transcription 1 (STAT1) Mutation
    Chitty-Lopez, Maria
    Duff, Carla
    Leiding, Jennifer
    JOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (SUPPL 1) : S142 - S142
  • [4] Mpox in a Patient With a Signal Transducer and Activator of Transcription 1 Gain-of-Function Mutation
    Mchugh, Jack W.
    Gomez, Eric O.
    Abu-Saleh, Omar M.
    Campioli, Cristina G. Corsini
    Chesdachai, Supavit
    Nazli, Saadiya
    Streck, Nicholas T.
    Cash-Goldwasser, Shama
    Rao, Agam K.
    Meyer, Michelle L.
    Joshi, Avni Y.
    Boyd, Kevin P.
    Villalba, Julian A.
    Quinton, Reade A.
    Tosh, Pritish K.
    Shah, Aditya S.
    MAYO CLINIC PROCEEDINGS, 2025, 100 (03) : 534 - 539
  • [5] 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
  • [6] Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
    Kataoka, Shinsuke
    Muramatsu, Hideki
    Okuno, Yusuke
    Hayashi, Yuta
    Mizoguchi, Yoko
    Tsumura, Miyuki
    Okada, Satoshi
    Kobayashi, Masao
    Sano, Chiaki
    Sato, Haruki
    Oh-iwa, Ichiro
    Ito, Masahumi
    Kojima, Daiei
    Hama, Asahito
    Takahashi, Yoshiyuki
    Kojima, Seiji
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2016, 137 (02) : 619 - 622
  • [7] Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders
    Consonni, Filippo
    Dotta, Laura
    Todaro, Francesca
    Vairo, Donatella
    Badolato, Raffaele
    CURRENT OPINION IN PEDIATRICS, 2017, 29 (06) : 711 - 717
  • [8] Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations
    Tabellini, Giovanna
    Vairo, Donatella
    Scomodon, Omar
    Tamassia, Nicola
    Ferraro, Rosalba Monica
    Patrizi, Ornella
    Gasperini, Sara
    Soresina, Annarosa
    Giardino, Giuliana
    Pignata, Claudio
    Lougaris, Vassilios
    Plebani, Alessandro
    Dotta, Laura
    Cassatella, Marco A.
    Parolini, Silvia
    Badolato, Raffaele
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2017, 140 (02) : 553 - +
  • [9] Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
    Forbes, Lisa R.
    Vogel, Tiphanie P.
    Cooper, Megan A.
    Castro-Wagner, Johana
    Schussler, Edith
    Weinacht, Katja G.
    Plant, Ashley S.
    Su, Helen C.
    Allenspach, Eric J.
    Slatter, Mary
    Abinun, Mario
    Lilic, Desa
    Cunningham-Rundles, Charlotte
    Eckstein, Olive
    Olbrich, Peter
    Guillerman, R. Paul
    Patel, Niraj C.
    Demirdag, Yesim Y.
    Zerbe, Christa
    Freeman, Alexandra F.
    Holland, Steven M.
    Szabolcs, Paul
    Gennery, Andrew
    Torgerson, Troy R.
    Milner, Joshua D.
    Leiding, Jennifer W.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 142 (05) : 1665 - 1669
  • [10] Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1)
    Marinelli, Lisa
    Ristagno, Elizabeth
    Fischer, Philip
    Abraham, Roshini
    Joshi, Avni
    BMJ CASE REPORTS, 2020, 13 (04)