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- [1] Orf Infection in a Patient with Stat1 Gain-of-FunctionJOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (01) : 80 - 83Kilic, Sara Sebnem论文数: 0 引用数: 0 h-index: 0机构: Uludag Univ, Sch Med, Dept Pediat, TR-16059 Bursa, Turkey Uludag Univ, Sch Med, Dept Pediat, TR-16059 Bursa, TurkeyPuel, Anne论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Imagine Inst, INSERM UMR 1163, Lab Human Genet Infect Dis,Necker Branch, Paris, EU, France Uludag Univ, Sch Med, Dept Pediat, TR-16059 Bursa, TurkeyCasanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Paris Descartes Univ, Imagine Inst, INSERM UMR 1163, Lab Human Genet Infect Dis,Necker Branch, Paris, EU, France Rockefeller Univ, Rockefeller Branch, St Giles Lab Human Genet Infect Dis, New York, NY 10065 USA Howard Hughes Med Inst, New York, NY USA Uludag Univ, Sch Med, Dept Pediat, TR-16059 Bursa, Turkey
- [2] Orf Infection in a Patient with Stat1 Gain-of-FunctionJournal of Clinical Immunology, 2015, 35 : 80 - 83Sara Sebnem Kilic论文数: 0 引用数: 0 h-index: 0机构: Uludag University School of Medicine,Department of PediatricsAnne Puel论文数: 0 引用数: 0 h-index: 0机构: Uludag University School of Medicine,Department of PediatricsJean-Laurent Casanova论文数: 0 引用数: 0 h-index: 0机构: Uludag University School of Medicine,Department of Pediatrics
- [3] Aortic Calcification in a Patient with a Gain-of-Function STAT1 MutationJOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (04) : 468 - 470Smyth, Anna E.论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp, Dept Radiol, Dublin, Ireland Our Ladys Childrens Hosp, Dept Radiol, Dublin, IrelandKaleviste, Epp论文数: 0 引用数: 0 h-index: 0机构: Univ Tartu, Inst Biomed & Translat Med, Tartu, Estonia Our Ladys Childrens Hosp, Dept Radiol, Dublin, IrelandSnow, Aisling论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp, Dept Radiol, Dublin, Ireland Our Ladys Childrens Hosp, Dept Radiol, Dublin, Ireland论文数: 引用数: h-index:机构:McMahon, Colin J.论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp, Dept Paediat Cardiol, Dublin, Ireland Our Ladys Childrens Hosp, Dept Radiol, Dublin, IrelandCant, Andrew J.论文数: 0 引用数: 0 h-index: 0机构: Great North Childrens Hosp, Dept Paediat Immunol & BMT, Newcastle Upon Tyne, Tyne & Wear, England Our Ladys Childrens Hosp, Dept Radiol, Dublin, IrelandLeahy, T. Ronan论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Childrens Hosp, Dept Paediat Immunol & Infect Dis, Dublin, Ireland Our Ladys Childrens Hosp, Dept Radiol, Dublin, Ireland
- [4] Aortic Calcification in a Patient with a Gain-of-Function STAT1 MutationJournal of Clinical Immunology, 2018, 38 : 468 - 470Anna E. Smyth论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of RadiologyEpp Kaleviste论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of RadiologyAisling Snow论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of RadiologyKai Kisand论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of RadiologyColin J. McMahon论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of RadiologyAndrew J. Cant论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of RadiologyT. Ronan Leahy论文数: 0 引用数: 0 h-index: 0机构: Our Lady’s Children’s Hospital,Department of Radiology
- [5] Case report: Myocarditis in congenital STAT1 gain-of functionFRONTIERS IN IMMUNOLOGY, 2023, 14Staels, Frederik论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Adapt Immunol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumRoosens, Willem论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumGiovannozzi, Simone论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium Katholieke Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Virol & Gene Therapy, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumMoens, Leen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumBogaert, Jan论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Imaging & Pathol, Translat MRI, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumIglesias-Herrero, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium Katholieke Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Virol & Gene Therapy, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumGijsbers, Rik论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Pharmaceut & Pharmacol Sci, Lab Mol Virol & Gene Therapy, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumBossuyt, Xavier论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Expt Lab Immunol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumFrans, Glynis论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Expt Lab Immunol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium论文数: 引用数: h-index:机构:Humblet-Baron, Stephanie论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Adapt Immunol, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumMeyts, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Lab Inborn Errors Immun, Leuven, Belgium Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumVan Aelst, Lucas论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Cardiovasc Dis, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, BelgiumSchrijvers, Rik论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium Katholieke Univ Leuven, Dept Microbiol Immunol & Transplantat, Allergy & Clin Immunol Res Grp, Leuven, Belgium
- [6] STAT1 gain-of-function and chronic demodicosisPEDIATRIC DERMATOLOGY, 2020, 37 (01) : 153 - 155Molho-Pessach, Vered论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Ctr Genet Dis Skin & Hair, Hadassah Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, IsraelMeltser, Arnon论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Ctr Genet Dis Skin & Hair, Hadassah Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, IsraelKamshov, Adaia论文数: 0 引用数: 0 h-index: 0机构: Genoox, Tel Aviv, Israel Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, IsraelRamot, Yuval论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Ctr Genet Dis Skin & Hair, Hadassah Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, IsraelZlotogorski, Abraham论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Ctr Genet Dis Skin & Hair, Hadassah Med Ctr, Jerusalem, Israel Hebrew Univ Jerusalem, Fac Med, Hadassah Med Ctr, Dept Dermatol, POB 12000, IL-9112001 Jerusalem, Israel
- [7] Is Gain-of-function STAT1 CMC An Interferonopathy?CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 2015, 182 : 15 - 15Al Shehri, Tariq论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandAbinun, Mario论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandGennery, Andrew R.论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandRice, Gillian I.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Acad Hlth S, Inst Human Dev, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, England Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandCrow, Yanik J.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Manchester Acad Hlth S, Inst Human Dev, Manchester Ctr Genom Med, Manchester M13 9PL, Lancs, England Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, EnglandLilic, Desa论文数: 0 引用数: 0 h-index: 0机构: Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Newcastle Univ, Inst Cellular Med, Primary Immunodeficiency Grp, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England
- [8] Gain-of-function STAT1 mutation and visceral leishmaniasisEINSTEIN-SAO PAULO, 2022, 20 : eRC0048Lyra, Paula Teixeira论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil Inst Med Integral Prof Fernando Figueira, Recife, PE, BrazilAugusto Moura Falcao, Ana Carla论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil Inst Med Integral Prof Fernando Figueira, Recife, PE, BrazilCruz, Rafael Amora论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil Inst Med Integral Prof Fernando Figueira, Recife, PE, BrazilCampos Coelho, Antonio Victor论文数: 0 引用数: 0 h-index: 0机构: Hosp Israelita Albert Einstein, Sao Paulo, SP, Brazil Inst Med Integral Prof Fernando Figueira, Recife, PE, BrazilSouza, Edvaldo da Silva论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil Inst Med Integral Prof Fernando Figueira, Recife, PE, BrazilArraes de Alencar, Luiz Claudio论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, BrazilOliveira, Joao Bosco论文数: 0 引用数: 0 h-index: 0机构: Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil Hosp Israelita Albert Einstein, Sao Paulo, SP, Brazil Inst Med Integral Prof Fernando Figueira, Recife, PE, Brazil
- [9] JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemiaMED, 2022, 3 (01): : 42 - +Rosenberg, Jacob M.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA Ragon Inst MGH MIT & Harvard, Cambridge, MA 02139 USA Harvard Med Sch, Boston, MA 02115 USA Harvard TH Chan Sch Publ Hlth, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USAPeters, Joshua M.论文数: 0 引用数: 0 h-index: 0机构: Ragon Inst MGH MIT & Harvard, Cambridge, MA 02139 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USAHughes, Travis论文数: 0 引用数: 0 h-index: 0机构: Ragon Inst MGH MIT & Harvard, Cambridge, MA 02139 USA Harvard Med Sch, Boston, MA 02115 USA MIT, Dept Chem, Inst Med Engn & Sci, Cambridge, MA 02139 USA MIT, Koch Inst Integrat Canc Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USALareau, Caleb A.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USALudwig, Leif S.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USAMassoth, Lucas R.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USAAustin-Tse, Christina论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Partners Personalized Med, Lab Mol Med, Cambridge, MA USA Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USARehm, Heidi L.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02115 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Pathol, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA论文数: 引用数: h-index:机构:Chen, Yi-Bin论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USARegev, Aviv论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Genentech Inc, San Francisco, CA USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USAShalek, Alex K.论文数: 0 引用数: 0 h-index: 0机构: Ragon Inst MGH MIT & Harvard, Cambridge, MA 02139 USA Harvard Med Sch, Boston, MA 02115 USA MIT, Dept Chem, Inst Med Engn & Sci, Cambridge, MA 02139 USA MIT, Koch Inst Integrat Canc Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA Broad Inst MIT & Harvard, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USAFortune, Sarah M.论文数: 0 引用数: 0 h-index: 0机构: Ragon Inst MGH MIT & Harvard, Cambridge, MA 02139 USA Harvard Med Sch, Boston, MA 02115 USA Harvard TH Chan Sch Publ Hlth, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USASykes, David B.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Ctr Regenerat Med, Dept Med, Boston, MA 02114 USA Harvard Stem Cell Inst, Cambridge, MA 02138 USA Massachusetts Gen Hosp, Ctr Canc, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Med, Boston, MA 02114 USA
- [10] Rosacea and demodicidosis associated with gain-of-function mutation in STAT1JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2017, 31 (12) : E542 - E544Second, J.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Dept Dermatol, Strasbourg, France Hop Univ Strasbourg, Dept Dermatol, Strasbourg, FranceKorganow, A. -S.论文数: 0 引用数: 0 h-index: 0机构: Hop Univ Strasbourg, Dept Clin Immunol & Internal Med, Natl Reference Ctr Autoimmune Dis, Strasbourg, France Hop Univ Strasbourg, Dept Dermatol, Strasbourg, France论文数: 引用数: h-index:机构:Puel, A.论文数: 0 引用数: 0 h-index: 0机构: INSERM, U1163, Lab Human Genet Infect Dis, Necker Branch, Paris, France Hop Univ Strasbourg, Dept Dermatol, Strasbourg, France论文数: 引用数: h-index:机构: