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
来源：
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY | 2014年 / 134卷 / 01期
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
  • [41] Is Gain-of-function STAT1 CMC An Interferonopathy?
    Al Shehri, Tariq
    Abinun, Mario
    Gennery, Andrew R.
    Rice, Gillian I.
    Crow, Yanik J.
    Lilic, Desa
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2015, 182 : 15 - 15
  • [42] Signal Transducer and Activator of Transcription 1 (STAT1) is a Transcriptional Inhibitor of VEGF Gene Expression
    Labazi, M.
    Marcus, D. M.
    Lamoke, F.
    Varano, M.
    Caldwell, R. B.
    Bartoli, M.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [43] Chronic Lung Suppurative Disease in a Child Related to a STAT1 Heterozygous Gain-of-Function Mutation
    Renoux, Marie Catherine
    Moreau, Johan
    Vigue, Marie Gabrielle
    ARCHIVOS DE BRONCONEUMOLOGIA, 2020, 56 (04): : 263 - 264
  • [44] Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
    Leiding, Jennifer W.
    Okada, Satoshi
    Hagin, David
    Abinun, Mario
    Shcherbina, Anna
    Balashov, Dmitry N.
    Kim, Vy H. D.
    Ovadia, Adi
    Guthery, Stephen L.
    Pulsipher, Michael
    Lilic, Desa
    Devlin, Lisa A.
    Christie, Sharon
    Depner, Mark
    Fuchs, Sebastian
    van Royen-Kerkhof, Annet
    Lindemans, Caroline
    Petrovic, Aleksandra
    Sullivan, Kathleen E.
    Bunin, Nancy
    Kilic, Sara Sebnem
    Arpaci, Fikret
    de la Calle-Martin, Oscar
    Martinez-Martinez, Laura
    Aldave, Juan Carlos
    Kobayashi, Masao
    Ohkawa, Teppei
    Imai, Kohsuke
    Iguchi, Akihiro
    Roifman, Chaim M.
    Gennery, Andrew R.
    Slatter, Mary
    Ochs, Hans D.
    Morio, Tomohiro
    Torgerson, Troy R.
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2018, 141 (02) : 704 - +
  • [45] An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases
    Maeshima, Keisuke
    Ishii, Koji
    Shibata, Hirotaka
    JOURNAL OF RHEUMATOLOGY, 2019, 46 (03) : 325 - +
  • [46] Hypereosinophilia as a Novel Presenting Feature of STAT1 Gain-of-Function Mutation.
    Norris, Maxwell
    Aktas, Ozge Nur
    Lamborn, Ian
    Fraser, Jamie
    Lin, Adora
    JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2023, 151 (02) : AB108 - AB108
  • [47] Rosacea as a striking feature in family members with a STAT1 gain-of-function mutation
    Saez-de-Ocariz, M.
    Suarez-Gutierrez, M.
    Migaud, M.
    O'Farrill-Romanillos
    Casanova, J. L.
    Segura-Mendez, N. H.
    Orozco-Covarrubias, L.
    Espinosa-Padilla, S. E.
    Puel, A.
    Blancas-Galicia, L.
    JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2020, 34 (06) : E265 - E267
  • [48] Disseminated cryptococcal lymphadenitis in a patient with STAT1 gain-of-function: diagnostic and therapeutic challenges
    Romano, Roberta
    Cillo, Francesca
    Grilli, Laura
    Toriello, Elisabetta
    De Rosa, Antonio
    Cirillo, Emilia
    Pignata, Claudio
    Giardino, Giuliana
    CLINICAL IMMUNOLOGY, 2024, 262
  • [49] Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined
    Kaleviste, Epp
    Saare, Mario
    Leahy, Timothy Ronan
    Bondet, Vincent
    Duffy, Darragh
    Mogensen, Trine H.
    Jorgensen, Sofie E.
    Nurm, Helke
    Ip, Winnie
    Davies, E. Graham
    Sauer, Sascha
    Syvanen, Ann-Christine
    Milani, Lili
    Peterson, Part
    Kisand, Kai
    EUROPEAN JOURNAL OF IMMUNOLOGY, 2019, 49 (05) : 790 - 800
  • [50] Orf Infection in a Patient with Stat1 Gain-of-Function
    Kilic, Sara Sebnem
    Puel, Anne
    Casanova, Jean-Laurent
    JOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (01) : 80 - 83
12345