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- [1] Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic MutantsARTHRITIS & RHEUMATOLOGY, 2020, 72Baysac, Kathleen论文数: 0 引用数: 0 h-index: 0机构: NIAMS, NIH, Bethesda, MD USA NIAMS, NIH, Bethesda, MD USAFisher, Charles论文数: 0 引用数: 0 h-index: 0机构: NIAMS, NIH, Bethesda, MD USA NIAMS, NIH, Bethesda, MD USANakano, Hiroto论文数: 0 引用数: 0 h-index: 0机构: NIAMS, NIH, Bethesda, MD USA NIAMS, NIH, Bethesda, MD USAMilner, Joshua论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Med Ctr, Div Allergy Immunol & Rheumatol, New York, NY USA NIAMS, NIH, Bethesda, MD USAOmbrello, Michael论文数: 0 引用数: 0 h-index: 0机构: NIAMS, Translat Genet & Genom Unit, NIH, Bethesda, MD USA NIAMS, NIH, Bethesda, MD USA
- [2] A rare case of PLCG2-associated antibody deficiency and immune dysregulation associated with a synonymous variant in the PLCG2 geneRHEUMATOLOGY, 2023, 62 (09) : E273 - E275Wu, Na论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R China Minist Sci & Technol, Natl Clin Res Ctr Dermatol & Immunol Dis, Beijing, Peoples R China Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R ChinaWu, Di论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R China Minist Sci & Technol, Natl Clin Res Ctr Dermatol & Immunol Dis, Beijing, Peoples R China Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R ChinaShen, Min论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci & Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R China Minist Sci & Technol, Natl Clin Res Ctr Dermatol & Immunol Dis, Beijing, Peoples R China Peking Union Med Coll Hosp, State Key Lab Complex Severe & Rare Dis, Beijing, Peoples R China Minist Educ, Key Lab Rheumatol & Clin Immunol, Beijing, Peoples R China Peking Union Med Coll Hosp, Dept Rheumatol, 1 Shuaifuyuan, Beijing 100730, Peoples R China Chinese Acad Med Sci & Peking Union Med Coll, Dept Rheumatol & Clin Immunol, Beijing, Peoples R China
- [3] A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from IranIMMUNOLOGY LETTERS, 2020, 221 : 27 - 32论文数: 引用数: h-index:机构:Kafshboran, Haniyeh Rahbar论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, TGAC, Tabriz, Iran Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, Iran论文数: 引用数: h-index:机构:Nojadeh, Jafar Nouri论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, Fac Med, Dept Med Genet, Tabriz, Iran Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, IranDaghagh, Hossein论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, TGAC, Tabriz, Iran Tabriz Univ Med Sci, Fac Med, Dept Med Genet, Tabriz, Iran Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, IranDaneshmandpour, Yousef论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, TGAC, Tabriz, Iran Tabriz Univ Med Sci, Fac Med, Dept Med Genet, Tabriz, Iran Tabriz Univ Med Sci, Student Res Comm, Tabriz, Iran Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, IranKazemzadeh, Mina论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, TGAC, Tabriz, Iran Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, IranHamzeiy, Hamid论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, TGAC, Tabriz, Iran Genomize Inc, Istanbul, Turkey Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, IranSakhinia, Ebrahim论文数: 0 引用数: 0 h-index: 0机构: Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, Iran Tabriz Univ Med Sci, TGAC, Tabriz, Iran Tabriz Univ Med Sci, Fac Med, Dept Med Genet, Tabriz, Iran Tabriz Univ Med Sci, Connect Tissue Dis Res Ctr, Tabriz, Iran
- [4] PLCG2 Variants Influence CVID Susceptibility: Expanding the Spectrum of PLCG2-Associated Immune DysregulationARTHRITIS & RHEUMATOLOGY, 2018, 70Szymanski, Ann Marie论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USA NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USABaysac, Kathleen论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USA NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USAMarcy, Hannah论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USA NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USABaskin, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USA NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USAMilner, Joshua论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Allerg Dis, 9000 Rockville Pike, Bethesda, MD 20892 USA NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USAOmbrello, Michael论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USA NIAMSD, Translat Genet & Genom Unit, Bethesda, MD 20892 USA
- [5] Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 MutationsJournal of Clinical Immunology, 2020, 40 : 987 - 1000Andrea Martín-Nalda论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaClaudia Fortuny论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaLourdes Rey论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaTom D. Bunney论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaLaia Alsina论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaAna Esteve-Solé论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaDaniel Bull论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaMaria Carmen Anton论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaMaría Basagaña论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaFerran Casals论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaAngela Deyá论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaMarina García-Prat论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaRamon Gimeno论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaManel Juan论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaHelios Martinez-Banaclocha论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaJuan J Martinez-Garcia论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaAnna Mensa-Vilaró论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaRaquel Rabionet论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaNieves Martin-Begue论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaFrancesc Rudilla论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaJordi Yagüe论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaXavier Estivill论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaVicente García-Patos论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaRamon M. Pujol论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaPere Soler-Palacín论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaMatilda Katan论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaPablo Pelegrín论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaRoger Colobran论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaAsun Vicente论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de RecercaJuan I. Arostegui论文数: 0 引用数: 0 h-index: 0机构: Hospital Universitari Vall d’Hebron,Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron Institut de Recerca
- [6] Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 MutationsJOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (07) : 987 - 1000Martin-Nalda, Andrea论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, Spain Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainFortuny, Claudia论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, Spain Hosp St Joan de Deu, Dept Pediat, Esplugues, Spain Univ Barcelona, Inst Recerca Hosp St Joan de Deu, Esplugues, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainRey, Lourdes论文数: 0 引用数: 0 h-index: 0机构: Hosp Alvaro Cunqueiro, Dept Pediat, Vigo, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainBunney, Tom D.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Struct & Mol Biol, London, England Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainAlsina, Laia论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Inst Recerca Hosp St Joan de Deu, Esplugues, Spain Hosp St Joan de Deu, Dept Allergy & Clin Immunol Clin Immunol & Primar, Immunodeficiencies Unit, Esplugues, Spain Hosp St Joan de Deu, Clin Immunol Unit, Hosp Clin, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainEsteve-Sole, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Inst Recerca Hosp St Joan de Deu, Esplugues, Spain Hosp St Joan de Deu, Dept Allergy & Clin Immunol Clin Immunol & Primar, Immunodeficiencies Unit, Esplugues, Spain Hosp St Joan de Deu, Clin Immunol Unit, Hosp Clin, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainBull, Daniel论文数: 0 引用数: 0 h-index: 0机构: UCL, ARUK Drug Discovery Inst, London, England Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainCarmen Anton, Maria论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Immunol CDB, Esc 4 Pl 0,Villarroel 170, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainBasagana, Maria论文数: 0 引用数: 0 h-index: 0机构: Autonomous Univ Barcelona, Hosp Univ Germans Trias & Pujol, Allergy Sect, Badalona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainCasals, Ferran论文数: 0 引用数: 0 h-index: 0机构: Univ Pompeu Fabra, Expt & Hlth Sci Dept, Genom Core Facil, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainDeya, Angela论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Inst Recerca Hosp St Joan de Deu, Esplugues, Spain Hosp St Joan de Deu, Dept Allergy & Clin Immunol Clin Immunol & Primar, Immunodeficiencies Unit, Esplugues, Spain Hosp St Joan de Deu, Clin Immunol Unit, Hosp Clin, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainGarcia-Prat, Marina论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, Spain Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainGimeno, Ramon论文数: 0 引用数: 0 h-index: 0机构: Hosp del Mar, Inst Mar Invest Med, Dept Immunol, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainJuan, Manel论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Immunol CDB, Esc 4 Pl 0,Villarroel 170, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer, Barcelona, Spain Univ Barcelona, Sch Med, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainMartinez-Banaclocha, Helios论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Inst Murciano Invest Biosanitaria IMIB Arrixaca, Murcia, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainMartinez-Garcia, Juan J.论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Inst Murciano Invest Biosanitaria IMIB Arrixaca, Murcia, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainMensa-Vilaro, Anna论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Immunol CDB, Esc 4 Pl 0,Villarroel 170, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainRabionet, Raquel论文数: 0 引用数: 0 h-index: 0机构: Univ Barcelona, Inst Recerca Hosp St Joan de Deu, Esplugues, Spain Univ Barcelona, Fac Biol, Dept Genet Microbiol & Stat, IBUB,CIBERER,IRJSD, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainMartin-Begue, Nieves论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Dept Pediat Ophthalmol, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainRudilla, Francesc论文数: 0 引用数: 0 h-index: 0机构: Blood & Tissue Bank, Histocompatibil & Immunogenet Lab, Barcelona, Spain Autonomous Univ Barcelona, Vall dHebron Res Inst, Transfus Med Grp, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainYague, Jordi论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Immunol CDB, Esc 4 Pl 0,Villarroel 170, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer, Barcelona, Spain Univ Barcelona, Sch Med, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainEstivill, Xavier论文数: 0 引用数: 0 h-index: 0机构: Quantitat Genom Med Labs qGenom, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainGarcia-Patos, Vicente论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Dept Pediat Dermatol, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainPujol, Ramon M.论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona, Hosp del Mar, Inst Mar Invest Med, Dept Dermatol, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainSoler-Palacin, Pere论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, Spain Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Barcelona, Spain Univ Autonoma Barcelona, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainKatan, Matilda论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Struct & Mol Biol, London, England Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainPelegrin, Pablo论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Univ Virgen de la Arrixaca, Inst Murciano Invest Biosanitaria IMIB Arrixaca, Murcia, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainColobran, Roger论文数: 0 引用数: 0 h-index: 0机构: Jeffrey Modell Diagnost & Res Ctr Primary Immunod, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Res Inst, Dept Clin & Mol Genet, Immunol Div, Barcelona, Spain Autonomous Univ Barcelona, Dept Cell Biol Physiol & Immunol, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainVicente, Asun论文数: 0 引用数: 0 h-index: 0机构: Hosp St Joan de Deu, Dept Pediat Dermatol, Esplugues, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, SpainArostegui, Juan, I论文数: 0 引用数: 0 h-index: 0机构: Hosp Clin Barcelona, Dept Immunol CDB, Esc 4 Pl 0,Villarroel 170, Barcelona, Spain Inst Invest Biomed August Pi i Sunyer, Barcelona, Spain Univ Barcelona, Sch Med, Barcelona, Spain Hosp Univ Vall dHebron, Vall dHebron Inst Recerca, Pediat Infect Dis & Immunodeficiencies Unit, Barcelona, Spain
- [7] PLCG2 gene calcium-binding C2 domain variant results in autoinflammation and phospholipase C-gamma-2-associated antibody deficiency and immune dysregulation phenotypeJOURNAL OF CLINICAL IMMUNOLOGY, 2018, 38 (03) : 394 - 394Read, Jay A.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Pediat & Communicable Dis, Ann Arbor, MI 48109 USA Univ Michigan, Pediat & Communicable Dis, Ann Arbor, MI 48109 USARozmus, Jacob论文数: 0 引用数: 0 h-index: 0机构: Univ British Columbia, Pediat Hematol Oncol & BMT, Vancouver, BC, Canada Univ Michigan, Pediat & Communicable Dis, Ann Arbor, MI 48109 USAHannibal, Mark C.论文数: 0 引用数: 0 h-index: 0机构: Michigan Med, Pediat Genet Metab & Genom Med, Immunohematol Comprehens Program, Ann Arbor, MI USA Univ Michigan, Pediat & Communicable Dis, Ann Arbor, MI 48109 USA
- [8] Multiple cutaneous squamous cell carcinomas with confluent noncaseating epithelioid granulomas in PLCG2-associated antibody deficiency and immune dysregulation (PLAID) syndrome: A case reportJOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2019, 81 (04) : AB242 - AB242Chao, Elizabeth论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USA Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USACardis, Michael论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USA Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USAJanislow, Jedrych论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Med Ctr, Dept Pathol, Pittsburgh, PA USA Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USACarroll, Bryan论文数: 0 引用数: 0 h-index: 0机构: Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USA Univ Pittsburgh, Dept Dermatol, Pittsburgh, PA 15260 USA
- [9] PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variantsJOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2024, 153 (01) : 230 - 242Baysac, Kathleen论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USASun, Guangping论文数: 0 引用数: 0 h-index: 0机构: NIAID, Lab Allerg Dis, NIH, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USANakano, Hiroto论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USASchmitz, Elizabeth G.论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USACruz, Anthony C.论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USAFisher, Charles论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USABailey, Alexis C.论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA论文数: 引用数: h-index:机构:Milner, Joshua D.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Pediat, Vagelos Coll Phys & Surg, Div Allergy Immunol & Rheumatol, New York, NY USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USAOmbrello, Michael J.论文数: 0 引用数: 0 h-index: 0机构: NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA NIAMSD, Translat Genet & Genom Sect, Bethesda, MD USA