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- [31] COMMON VARIABLE IMMUNODEFICIENCY AND EARLY-ONSET AUTOIMMUNE MANIFESTATIONS ASSOCIATED WITH COUPLED MUTATIONS IN NFKB2 AND STAT5A GENESJOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (03) : 317 - 317Maccari, Maria-Elena论文数: 0 引用数: 0 h-index: 0机构: Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyFloris, Matteo论文数: 0 引用数: 0 h-index: 0机构: Crs4, Biomed, Pula, CA, Italy Cittadella Univ Monserrato, CNR, IRGB, Monserrato, CA, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyCorrente, Stefania论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyAngius, Andrea论文数: 0 引用数: 0 h-index: 0机构: Crs4, Biomed, Pula, CA, Italy Cittadella Univ Monserrato, CNR, IRGB, Monserrato, CA, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalySartirana, Claudia论文数: 0 引用数: 0 h-index: 0机构: Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyDi Cesare, Silvia论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyRosenberg, Jacob M.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Div Rheumatol & Immunol, Dept Med, Stanford, CA 94305 USA Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyUtz, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Sch Med, Div Rheumatol & Immunol, Dept Med, Stanford, CA 94305 USA Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyBulfone, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Crs4, Biomed, Pula, CA, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyAngelini, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy CHU Vaudois, Dept Med Chirurg Pediat, Unite Immuno Allergol & Rhumatol, Lausanne, Switzerland Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyFierabracci, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Bioflag Srl, Pula, CA USA Bambino Gesu Childrens Hosp IRCCS, Immunol & Pharmacotherapy Area, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyCambiaso, Paola论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyAiuti, Alessandro论文数: 0 引用数: 0 h-index: 0机构: Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, Italy Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyCappa, Marco论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, ItalyCancrini, Caterina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Childrens Hosp IRCCS, Univ Dept Paediat, DPUO, Rome, Italy Univ Roma Tor Vergata, Dept Syst Med, Rome, Italy Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy HSR TIGET, Div Regenerat Med Stem Cells & Gene Therapy, I-20132 Milan, Italy论文数: 引用数: h-index:机构:
- [32] A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiencyHUMAN GENOME VARIATION, 2024, 11 (01)Nakatani, Naoko论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanTamura, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanHanafusa, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanNino, Nanako论文数: 0 引用数: 0 h-index: 0机构: Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan Hyogo Prefectural Harima Himeji Gen Med Ctr, Dept Pediat, Himeji, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan论文数: 引用数: h-index:机构:Awano, Hiroyuki论文数: 0 引用数: 0 h-index: 0机构: Tottori Univ, Res Initiat Ctr, Org Res Initiat & Promot, Tottori, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanTanaka, Yasuhiro论文数: 0 引用数: 0 h-index: 0机构: Shinko Hosp, Dept Hematol, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanMorisada, Naoya论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Clin Genet, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanUemura, Suguru论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanSaito, Atsuro论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, JapanHasegawa, Daiichiro论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan论文数: 引用数: h-index:机构:Kosaka, Yoshiyuki论文数: 0 引用数: 0 h-index: 0机构: Hyogo Prefectural Kobe Childrens Hosp, Dept Hematol & Oncol, Kobe, Japan Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Japan
- [33] A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical ManifestationFRONTIERS IN GENETICS, 2019, 10Kotlinowski, Jerzy论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland论文数: 引用数: h-index:机构:Koppolu, Agnieszka论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Med Univ Warsaw, Postgrad Sch Mol Med, Warsaw, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland论文数: 引用数: h-index:机构:Pydyn, Natalia论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland论文数: 引用数: h-index:机构:Wilamowski, Mateusz论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, PolandNowak, Witold论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Fac Biochem Biophys & Biotechnol, Dept Med Biotechnol, Krakow, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland论文数: 引用数: h-index:机构:Baran, Jaroslaw论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Dept Clin Immunol, Inst Pediat, Med Coll, Krakow, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, PolandPloski, Rafal论文数: 0 引用数: 0 h-index: 0机构: Med Univ Warsaw, Dept Med Genet, Warsaw, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, PolandJura, Jolanta论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland Jagiellonian Univ, Dept Gen Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland
- [34] A novel mutation in the Nfkb2 gene generates an NFκB2 'Super repressor'CYTOKINE, 2007, 39 (01) : 43 - 43Tucker, Elena论文数: 0 引用数: 0 h-index: 0机构: St Vincents Inst Med Res, Fitzroy, Vic 3065, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaO'Donnell, Kristy论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaHilton, Adrienne A.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaMetcalf, Donald论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaGreig, Kylie论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaSims, Natalie A.论文数: 0 引用数: 0 h-index: 0机构: St Vincents Inst Med Res, Fitzroy, Vic 3065, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaQuinn, Julian M.论文数: 0 引用数: 0 h-index: 0机构: St Vincents Inst Med Res, Fitzroy, Vic 3065, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaHilton, Douglas J.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaKile, Benjamin T.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaTarlinton, David M.论文数: 0 引用数: 0 h-index: 0机构: Walter & Eliza Hall Inst Med Res, Parkville, Vic 3050, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, AustraliaStarr, Robyn论文数: 0 引用数: 0 h-index: 0机构: St Vincents Inst Med Res, Fitzroy, Vic 3065, Australia St Vincents Inst Med Res, Fitzroy, Vic 3065, Australia
- [35] Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotypeBLOOD, 2017, 130 (13) : 1553 - 1564Kuehn, Hye Sun论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USANiemela, Julie E.论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USASreedhara, Karthik论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAStoddard, Jennifer L.论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAGrossman, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Alberta Hlth Serv, Div Hematol & Hematol Malignancies, Calgary, AB, Canada NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAWysocki, Christian A.论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med & Pediat, Div Allergy & Immunol, Dallas, TX 75390 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAde la Morena, M. Teresa论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Southwestern Med Ctr Dallas, Dept Internal Med & Pediat, Div Allergy & Immunol, Dallas, TX 75390 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAGarofalo, Mary论文数: 0 引用数: 0 h-index: 0机构: NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAInlora, Jingga论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USASnyder, Michael P.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Genet, Stanford, CA 94305 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USALewis, David B.论文数: 0 引用数: 0 h-index: 0机构: Stanford Univ, Dept Pediat, Sch Med, Div Allergy Immunol & Rheumatol, Stanford, CA 94305 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAStratakis, Constantine A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Sect Endocrinol & Genet, Bldg 10, Bethesda, MD 20892 USA NIH, Program Dev Endocrinol & Genet, Bldg 10, Bethesda, MD 20892 USA Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Pediat Endocrinol Interinst Training Program, NIH, Bethesda, MD USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USAFleisher, Thomas A.论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USARosenzweig, Sergio D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bldg 10,Room 2C306,10 Ctr Dr,MSC1508, Bethesda, MD 20892 USA
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