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- [1] A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and AutoinflammationJOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (02) : 512 - 520Sacco, Keith论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA Phoenix Childrens Hosp, Div Pulmonol, Sect Allergy Immunol, Phoenix, AZ USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKuehn, Hye Sun论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bethesda, MD USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKawai, Tomoki论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAAlsaati, Nouf论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USASmith, Lauren论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Kings Daughters, Eastern Virginia Med Sch, Norfolk, VA USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USADavila, Blachy论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA Childrens Natl Hosp, Div Blood & Marrow Transplantat, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USABundy, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKuhns, Douglas B.论文数: 0 引用数: 0 h-index: 0机构: Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Frederick, MD USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USADobbs, Kerry论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USADelmonte, Ottavia论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USANotarangelo, Luigi D.论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USARosenzweig, Sergio D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Immunol Serv, Dept Lab Med, Clin Ctr, Bethesda, MD USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USAKeller, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hosp, Div Allergy & Immunol, Washington, DC USA NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, Div Intramural Res,NIH, 10 Ctr Dr,Rm 5-3840W, Bethesda, MD 20914 USA
- [2] Novel Compound Heterozygous variants in IKBKB associated with Autoimmunity and AutoinflammationJOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S86 - S87Alsaati, Nouf论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USASacco, Keith论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Clin Immunol & Microbiol, Immune Deficiency Genet Sect, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USASmith, Lauren论文数: 0 引用数: 0 h-index: 0机构: Eastern Virginia Med Sch, Kings Daughters, Childrens Hosp, Pediat, Norfolk, VA 23501 USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USAAhmed-Winston, Sameeya论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Blood & Marrow Transplantat, Washington, DC USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USASaldana, Blachy Blachy Davila论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Blood & Marrow Transplantat, Washington, DC USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USAKuehn, Hyesun论文数: 0 引用数: 0 h-index: 0机构: NIH, Serv Immunol, Dept Lab Med, Bldg 10, Bethesda, MD 20892 USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USARosenzweig, Sergio论文数: 0 引用数: 0 h-index: 0机构: NIH, Serv Immunol, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USAKeller, Michael论文数: 0 引用数: 0 h-index: 0机构: Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USA Childrens Natl Hlth Syst, Div Allergy & Immunol, Washington, DC USA
- [3] A novel gain-of-function missense variant in PLCG2 associated with autoinflammation and hypergammaglobulinaemiaRHEUMATOLOGY, 2023, 62 (11) : e319 - e321Itakura, Takuji论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanSasaki, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, 1-5-45 Yushima,Bunkyo Ku, Tokyo 1138519, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanHosoya, Tadashi论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanYamaguchi, Taiki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanMimori, Erika论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanSaimon, Yukino论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Fac Med, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanIwai, Hideyuki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanUmezawa, Natsuka论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanKawata, Daisuke论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanKimura, Naoki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Lifetime Clin Immunol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanKurata, Morito论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ Hosp, Dept Comprehens Pathol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanShimizu, Masaki论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Pediat & Dev Biol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, JapanYasuda, Shinsuke论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Rheumatol, Tokyo, Japan
- [4] A Heterozygous Nonsense Variant of NFKBIA Leading to Gain-of-FunctionCLINICAL IMMUNOLOGY, 2023, 250 : 89 - 90LaHood, Ryan论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Childrens Hop Colorado, Sch Med, Boulder, CO USA Univ Colorado, Childrens Hop Colorado, Sch Med, Boulder, CO USAAbbott, Jordan论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado, Sch Med, Pediat, Dept Pediat,Allergy & Immunol Sect, Boulder, CO USA Univ Colorado, Childrens Hop Colorado, Sch Med, Boulder, CO USA
- [5] Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in ChildhoodAMERICAN JOURNAL OF HUMAN GENETICS, 2017, 101 (02) : 267 - 273Edvardson, Simon论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Pediat Neurol Unit, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelNicolae, Claudia M.论文数: 0 引用数: 0 h-index: 0机构: Penn State Univ, Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelAgrawal, Pankaj B.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Newborn Med, Boston, MA 02115 USA Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Div Genet & Genom, Boston, MA 02115 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelMignot, Cyril论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, Ctr Reference Deficiences Intellectuelles Causes, F-75013 Paris, France Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPayne, Katelyn论文数: 0 引用数: 0 h-index: 0机构: Riley Hosp Children, Indianapolis, IN 46202 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPrasad, Asuri Narayan论文数: 0 引用数: 0 h-index: 0机构: Univ Western Ontario, Dept Pediat, Sect Paediat Neurol, London, ON N6A 3K7, Canada Univ Western Ontario, Div Clin Neurol Sci, Fac Med, Schulich Sch Med & Dent, London, ON N6A 3K7, Canada Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPrasad, Chitra论文数: 0 引用数: 0 h-index: 0机构: Western Univ, Dept Paediat, Sect Genet, London, ON N6A 3K7, Canada Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelSadler, Laurie论文数: 0 引用数: 0 h-index: 0机构: SUNY Buffalo, Women & Childrens Hosp Buffalo, Dept Pediat, Div Genet,Jacobs Sch Med & Biomed Sci, Buffalo, NY 14214 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel论文数: 引用数: h-index:机构:Mullen, Thomas E.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 53377 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelBegtrup, Amber论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelBaskin, Berivan论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD 20877 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelPowis, Zoe论文数: 0 引用数: 0 h-index: 0机构: Ambry Genet, Dept Emerging Genet Med, Aliso Viejo, CA 92656 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelShaag, Avraham论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelKeren, Boris论文数: 0 引用数: 0 h-index: 0机构: GH Pitie Salpetriere, AP HP, Dept Genet, Ctr Reference Deficiences Intellectuelles Causes, F-75013 Paris, France Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelMoldovan, George-Lucian论文数: 0 引用数: 0 h-index: 0机构: Penn State Univ, Coll Med, Dept Biochem & Mol Biol, Hershey, PA 17033 USA Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, IsraelElpeleg, Orly论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel Hadassah Hebrew Univ, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel
- [6] Gain-of-function IKBKB Mutation Causes Human Combined Immune DeficiencyJOURNAL OF CLINICAL IMMUNOLOGY, 2019, 39 : S120 - S121Miraghazadeh, Bahar论文数: 0 引用数: 0 h-index: 0机构: John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan Translat Res Unit, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanCardinez, Chelisa论文数: 0 引用数: 0 h-index: 0机构: John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan Translat Res Unit, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanTanita, Kay论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Child Hlth & Dev, Grad Sch Med & Dent Sci, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japanda Silva, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Canberra Hosp, Dept Immunol, Canberra, ACT, Australia John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanHoshino, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Child Hlth & Dev, Grad Sch Med & Dent Sci, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanChand, Rochna论文数: 0 引用数: 0 h-index: 0机构: Canberra Hosp, Dept Immunol, Canberra, ACT, Australia Canberra Hosp, Ctr Personalised Immunol, Canberra, ACT, Australia John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanAsano, Takaki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanTsumura, Miyuki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Dept Pediat, Grad Sch Biomed & Hlth Sci, Hiroshima, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan论文数: 引用数: h-index:机构:Ohnishi, Hidenori论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanKato, Zenichiro论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Gifu Univ, Struct Med, United Grad Sch Drug Discovery & Med Informat Sci, Gifu, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanYamazaki, Masahide论文数: 0 引用数: 0 h-index: 0机构: Keiju Med Ctr, Dept Internal Med, Nanao, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan论文数: 引用数: h-index:机构:Miyano, Satoru论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Lab DNA Informat Anal, Ctr Human Genome, Inst Med Sci, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanKojima, Seiji论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Grad Sch Med, Dept Pediat, Nagoya, Aichi, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan论文数: 引用数: h-index:机构:Andrews, Daniel论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Canberra, ACT, Australia John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Morio, Tomohiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Child Hlth & Dev, Grad Sch Med & Dent Sci, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanVinuesa, Carol论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia John Curtin Sch Med Res & Translat Res Unit, Tokyo, JapanKanegane, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Dept Child Hlth & Dev, Grad Sch Med & Dent Sci, Tokyo, Japan John Curtin Sch Med Res & Translat Res Unit, Tokyo, Japan论文数: 引用数: h-index:机构:
- [7] Gain-of-function IKBKB mutation causes human combined immune deficiencyJOURNAL OF EXPERIMENTAL MEDICINE, 2018, 215 (11): : 2715 - 2724Cardinez, Chelisa论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Canberra Hosp, Dept Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia论文数: 引用数: h-index:机构:Tanita, Kay论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australiada Silva, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Canberra Hosp, Dept Immunol, Canberra, ACT, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaHoshino, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaOkada, Satoshi论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaChand, Rochna论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Canberra Hosp, Dept Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaAsano, Takaki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaTsumura, Miyuki论文数: 0 引用数: 0 h-index: 0机构: Hiroshima Univ, Grad Sch Biomed & Hlth Sci, Dept Pediat, Hiroshima, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia论文数: 引用数: h-index:机构:Ohnishi, Hidenori论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaKato, Zenichiro论文数: 0 引用数: 0 h-index: 0机构: Gifu Univ, Grad Sch Med, Dept Pediat, Gifu, Japan Gifu Univ, United Grad Sch Drug Discovery & Med Informat Sci, Struct Med, Gifu, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaYamazaki, Masahide论文数: 0 引用数: 0 h-index: 0机构: Keiju Med Ctr, Dept Internal Med, Nanao, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia论文数: 引用数: h-index:机构:Miyano, Satoru论文数: 0 引用数: 0 h-index: 0机构: Univ Tokyo, Human Genome Ctr, Inst Med Sci, Lab DNA Informat Anal, Tokyo, Japan Univ Tokyo, Human Genome Ctr, Inst Med Sci, Lab Sequence Anal, Tokyo, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaKojima, Seiji论文数: 0 引用数: 0 h-index: 0机构: Nagoya Univ, Dept Pediat, Grad Sch Med, Nagoya, Aichi, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia论文数: 引用数: h-index:机构:Andrews, T. Daniel论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaField, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia James Cook Univ, Australian Inst Trop Hlth & Med, Cairns, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia论文数: 引用数: h-index:机构:Morio, Tomohiro论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaVinuesa, Carola G.论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaKanegane, Hirokazu论文数: 0 引用数: 0 h-index: 0机构: Tokyo Med & Dent Univ, Grad Sch Med & Dent Sci, Dept Child Hlth & Dev, Tokyo, Japan Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, AustraliaCook, Matthew C.论文数: 0 引用数: 0 h-index: 0机构: Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia Canberra Hosp, Dept Immunol, Canberra, ACT, Australia Australian Natl Univ, John Curtin Sch Med Res, Dept Immunol & Infect Dis, Canberra, ACT, Australia Australian Natl Univ, Ctr Personalised Immunol, Canberra, ACT, Australia
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F-69007 Lyon, France论文数: 引用数: h-index:机构:Jamilloux, Yvan论文数: 0 引用数: 0 h-index: 0机构: Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, France Ctr Reference Malad Autoinflammatoires & Amyloses, CEREMAIA, Paris, France Univ Claude Bernard Lyon 1, Lyon Immunopathol Federat LIFE, Lyon, France Hosp Civils Lyon, Hop Croix Rousse, Serv Med Interne, Lyon, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, France论文数: 引用数: h-index:机构:Duquesne, Agnes论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Malad Autoinflammatoires & Amyloses, CEREMAIA, Paris, France Hop Femme Mere Enfant, Hosp Civils Lyon, Ctr Pluridisciplinaire Diagnost Prenatal, Bron, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceGrateau, Gilles论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Malad Autoinflammatoires & Amyloses, CEREMAIA, Paris, France Sorbonne Univ, Tenon Hosp, Assistance Publ Hop Paris, Dept Internal Med,Natl Reference Ctr Autoinflammat, Paris, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceSavey, Lea论文数: 0 引用数: 0 h-index: 0机构: Ctr Reference Malad Autoinflammatoires & Amyloses, CEREMAIA, Paris, France Sorbonne Univ, Tenon Hosp, Assistance Publ Hop Paris, Dept Internal Med,Natl Reference Ctr Autoinflammat, Paris, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceMaria, Alexandre Thibault Jacques论文数: 0 引用数: 0 h-index: 0机构: Montpellier Univ, St Eloi Hosp, Inst Regenerat Med & Biotherapy IRMB, Internal Med & Onco Immunol MedI2O, Montpellier, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FrancePagnier, Anne论文数: 0 引用数: 0 h-index: 0机构: Hop Couple Enfant, Ctr Hosp Univ Grenoble Alpes, Immunol Clin, Immuno Hemato Oncol IHO, Grenoble, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FrancePoutrel, Solene论文数: 0 引用数: 0 h-index: 0机构: Hosp Civils Lyon, Edouard Herriot Hosp, Serv Med Interne, Lyon, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceLambotte, Olivier论文数: 0 引用数: 0 h-index: 0机构: Hop Bicetre, Assistance Publ Hop Paris, Serv Med Interne & Immunol Clin, Grp Hosp Univ Paris Saclay, Le Kremlin Bicetre, France Univ Paris Saclay, Inserm UMR, CEA, Le Kremlin Bicetre, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceMallebranche, Coralie论文数: 0 引用数: 0 h-index: 0机构: Univ Angers, Univ Nantes, Inserm, CNRS,CRCI2NA,SFR ICAT, Angers, France Ctr Hosp Univ Angers, Pediat Immuno Hemato Oncol Unit, Angers, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceArdois, Samuel论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Rennes, Med Interne & Immunol Clin, Rennes, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceRicher, Olivier论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Reference Ctr Rheumat Autoimmune & Syst Dis Childr, Paediat Rheumatol & Paediat Internal Med, Bordeaux, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceLemelle, Irene论文数: 0 引用数: 0 h-index: 0机构: Lorraine Univ, Univ Hosp Nancy, Children Hosp, Dept Pediat Onco hematol, Vandoeuvre Les Nancy, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceRieux-Laucat, Frederic论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Imagine, Lab Immunogenet Pediat Autoimmune Dis, Inserm UMR 1163, Paris, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceBader-Meunier, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Univ Paris Cite, Inst Imagine, Lab Immunogenet Pediat Autoimmune Dis, Inserm UMR 1163, Paris, France Hop Necker Enfants Malad, Assistance Publ Hop Paris AP HP, Pediat Immunol Hematol & Rheumatol Dept, Paris, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceAmoura, Zahir论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, Hop Pitie Salpetriere, Assistance Publ Hop Paris AP HP, Inst E3M,Serv Med Interne 2,Ctr Natl Reference Lup, Paris, France Univ Claude Bernard Lyon 1, CNRS, Ctr Int Rech Infectiol, Univ Lyon,INSERM,UMR5308,ENS Lyon,U1111,CIRI, F-69007 Lyon, FranceMelki, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Reference Ctr Rheumat Autoimmune & Syst Dis Childr, Paediat 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