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- [42] Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to RuxolitinibJournal of Clinical Immunology, 2019, 39 : 776 - 785Tariq Al Shehri论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineKimberly Gilmour论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineFlorian Gothe论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineSam Loughlin论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineShahnaz Bibi论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineAndrew D. Rowan论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineAngela Grainger论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineThivytra Mohanadas论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineAndrew J. Cant论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineMary A. Slatter论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineSophie Hambleton论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineDesa Lilic论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular MedicineTimothy R. Leahy论文数: 0 引用数: 0 h-index: 0机构: Newcastle University,Institute of Cellular Medicine
- [43] A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasisMOLECULAR IMMUNOLOGY, 2015, 68 (02) : 597 - 605Martinez-Martinez, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainMartinez-Saavedra, Maria Teresa论文数: 0 引用数: 0 h-index: 0机构: Hosp Gran Canaria Dr Negrin, Dept Immunol, Las Palmas Gran Canaria, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainFuentes-Prior, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Creu & Sant Pau, Inst Biomed Res, Mol Basis Dis, Barcelona, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainBarnadas, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Dermatol, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainVictoria Rubiales, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainNoda, Judith论文数: 0 引用数: 0 h-index: 0机构: Hosp Gran Canaria Dr Negrin, Dept Immunol, Las Palmas Gran Canaria, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainBadell, Isabel论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp Santa Creu & Sant Pau, Dept Pediat, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, SpainRodriguez-Gallego, Carlos论文数: 0 引用数: 0 h-index: 0机构: Hosp Son Espases, Dept Immunol, Palma De Mallorca, Spain Res Inst Hlth Sci IdISPa, Palma De Mallorca, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spainde la Calle-Martina, Oscar论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain Univ Autonoma Barcelona, Dept Immunol, Hosp Santa Creu & Sant Pau, E-08193 Barcelona, Spain
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- [47] Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function DefectsJournal of Clinical Immunology, 2018, 38 : 745 - 747Andrea R. Bernasconi论文数: 0 引用数: 0 h-index: 0机构: Hospital de Pediatría “Dr. Juan P. Garrahan”,Immunology and Rheumatology DepartmentJudith Yancoski论文数: 0 引用数: 0 h-index: 0机构: Hospital de Pediatría “Dr. Juan P. Garrahan”,Immunology and Rheumatology DepartmentMariana Villa论文数: 0 引用数: 0 h-index: 0机构: Hospital de Pediatría “Dr. Juan P. Garrahan”,Immunology and Rheumatology DepartmentMatías M. Oleastro论文数: 0 引用数: 0 h-index: 0机构: Hospital de Pediatría “Dr. Juan P. Garrahan”,Immunology and Rheumatology DepartmentMiguel Galicchio论文数: 0 引用数: 0 h-index: 0机构: Hospital de Pediatría “Dr. Juan P. Garrahan”,Immunology and Rheumatology DepartmentJorge G. Rossi论文数: 0 引用数: 0 h-index: 0机构: Hospital de Pediatría “Dr. Juan P. Garrahan”,Immunology and Rheumatology Department
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