Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation

被引:0
|
作者
Ayca Kiykim
Louis Marie Charbonnier
Arzu Akcay
Elif Karakoc-Aydiner
Ahmet Ozen
Gulyuz Ozturk
Talal A. Chatila
Safa Baris
机构
[1] Marmara University,Division of Pediatric Allergy/Immunology
[2] Harvard Medical School,Division of Immunology, Boston Children’s Hospital and Department of Pediatrics
[3] Acibadem University,Acıbadem Atakent Hospital, Pediatric Bone Marrow Transplantation Unit
来源
关键词
STAT1; gain-of function mutation; mucocutaneous candidiasis; autoimmunity; hematopoietic stem cell transplantation;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:37 / 44
页数:7
相关论文
共 50 条
  • [41] Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation
    Basak Kayaoglu
    Nurhan Kasap
    Naz Surucu Yilmaz
    Louis Marie Charbonnier
    Busranur Geckin
    Arzu Akcay
    Sevgi Bilgic Eltan
    Gulyuz Ozturk
    Ahmet Ozen
    Elif Karakoc-Aydiner
    Talal A. Chatila
    Mayda Gursel
    Safa Baris
    Journal of Clinical Immunology, 2021, 41 : 769 - 779
  • [42] LABORATORY FINDINGS IN THREE PATIENTS WITH GAIN-OF-FUNCTION MUTATION IN STAT 1
    Moreira, I.
    Filardi, L.
    Bravo Kleiman, A.
    Seminario, A.
    Diaz Ballve, D.
    Comas, D.
    Gaillard, M. I.
    Gomez Raccio, A.
    Di Giovanni, D.
    Bezrodnik, L.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2012, 32 : 112 - 113
  • [43] Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
    Baris, Safa
    Alroqi, Fayhan
    Kiykim, Ayca
    Karakoc-Aydiner, Elif
    Ogulur, Ismail
    Ozen, Ahmet
    Charbonnier, Louis-Marie
    Bakir, Mustafa
    Boztug, Kaan
    Chatila, Talal A.
    Barlan, Isil B.
    JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (07) : 641 - 648
  • [44] Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy
    Satoshi Okada
    Takaki Asano
    Kunihiko Moriya
    Stephanie Boisson-Dupuis
    Masao Kobayashi
    Jean-Laurent Casanova
    Anne Puel
    Journal of Clinical Immunology, 2020, 40 : 1065 - 1081
  • [45] Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations
    Bierman-Chow, Shaia
    Freeman, Alexandra F.
    Holland, Steven M.
    Lynch, John
    Cho, Hyun Joo
    JOURNAL OF NEUROLOGY, 2022, 269 (10) : 5638 - 5642
  • [46] Gain-of-function human STAT1 mutations in patients with chronic mucocutaneous candidiasis
    Hiller, J.
    Eyerich, S.
    Eyerich, K.
    Schaller, M.
    Casanova, J.
    Cypowyj, S.
    Puel, A.
    Ring, J.
    Behrendt, H.
    Schmidt-Weber, C. B.
    Hofmann, H.
    Traidl-Hoffmann, C.
    EXPERIMENTAL DERMATOLOGY, 2012, 21 (03) : e30 - e30
  • [47] Cerebral aneurysm in three pediatric patients with STAT1 gain-of-function mutations
    Shaia Bierman-Chow
    Alexandra F. Freeman
    Steven M. Holland
    John Lynch
    Hyun Joo Cho
    Journal of Neurology, 2022, 269 : 5638 - 5642
  • [48] Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1
    Safa Baris
    Fayhan Alroqi
    Ayca Kiykim
    Elif Karakoc-Aydiner
    Ismail Ogulur
    Ahmet Ozen
    Louis-Marie Charbonnier
    Mustafa Bakır
    Kaan Boztug
    Talal A. Chatila
    Isil B. Barlan
    Journal of Clinical Immunology, 2016, 36 : 641 - 648
  • [49] Gain-of-function STAT1 mutations are associated with intracranial aneurysms
    Dadak, Mete
    Jacobs, Roland
    Skuljec, Jelena
    Jirmo, Adan Chari
    Yildiz, Oezlem
    Donnerstag, Frank
    Baerlecken, Niklas Thomas
    Schmidt, Reinhold Ernst
    Lanfermann, Heinrich
    Skripuletz, Thomas
    Schwenkenbecher, Philipp
    Kleinschnitz, Christoph
    Tumani, Hayrettin
    Stangel, Martin
    Pul, Refik
    CLINICAL IMMUNOLOGY, 2017, 178 : 79 - 85
  • [50] Characterization of a novel gain-of-function mutation in the interferon-dependent transcription factor STAT1
    Staab, J.
    Schwaemmle, T. F.
    Fangauf, S. V.
    Meyer, T.
    NAUNYN-SCHMIEDEBERGS ARCHIVES OF PHARMACOLOGY, 2019, 392 : S49 - S49