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- [41] Chronic mucocutaneous candidiasis and immune dysregulation due to STAT1 Gain of FunctionCLINICAL IMMUNOLOGY, 2023, 250 : 141 - 141Hauk, Stacey论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Hackensack, NJ USA Hackensack Univ, Med Ctr, Hackensack, NJ USAHannett, Katrina论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Hackensack, NJ USA Hackensack Univ, Med Ctr, Hackensack, NJ USAFowler, Shannon论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Hackensack, NJ USA Hackensack Univ, Med Ctr, Hackensack, NJ USAMcGoey, Barbara论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Hackensack, NJ USA Hackensack Univ, Med Ctr, Hackensack, NJ USARavell, Juan论文数: 0 引用数: 0 h-index: 0机构: Hackensack Univ, Med Ctr, Div Chief Allergy & Immunol, Hackensack, NJ USA Hackensack Univ, Med Ctr, Hackensack, NJ USA
- [42] Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasisSTEM CELL RESEARCH, 2020, 43Haake, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, Germany Hannover Med Sch, REBIRTH Cluster Excellence, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyWuestefeld, Tim论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, Germany Hannover Med Sch, REBIRTH Cluster Excellence, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyMerkert, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, REBIRTH Cluster Excellence, D-30625 Hannover, Germany Hannover Med Sch, Dept Cardiothorac Transplantat & Vasc Surg HTTG, Leibniz Res Labs Biotechnol & Artificial Organs L, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyLuettge, Doreen论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, Germany Hannover Med Sch, REBIRTH Cluster Excellence, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyGoehring, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyAuberd, Bernd论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyBaumann, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Paediat Pulmonol Allergol & Neonatol, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, GermanyLachmann, Nico论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, Germany Hannover Med Sch, REBIRTH Cluster Excellence, D-30625 Hannover, Germany Hannover Med Sch, Inst Expt Hematol, JRG Translat Hematol Congenital Dis, D-30625 Hannover, Germany
- [43] A GAIN-OF-FUNCTION MUTATION OF STAT1 IN A 3-YEAR-OLD CHILD WITH CHRONIC MUCOCUTANEOUS CANDIDIASIS AND AUTOIMMUNE HEPATITIS: A CASE REPORTJOURNAL OF CLINICAL IMMUNOLOGY, 2015, 35 (03) : 319 - 320Gave, Thais论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, BrazilMachado Fernandes, Maria Ines论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, BrazilOliveira Filho, Joao Bosco论文数: 0 引用数: 0 h-index: 0机构: IMIPE, Recife, PE, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, BrazilRoxo-Junior, Persio论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, Brazil Univ Sao Paulo, Ribeirao Preto Med Sch, BR-14049 Ribeirao Preto, Brazil
- [44] The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1JOURNAL OF CLINICAL IMMUNOLOGY, 2016, 36 (01) : 73 - 84Depner, Mark论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyFuchs, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany Univ Freiburg, Fac Biol, Hugstetter Str 55, D-79106 Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyRaabe, Jan论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyFrede, Natalie论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyGlocker, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyDoffinger, Rainer论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyGkrania-Klotsas, Effrossyni论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyKumararatne, Dinakantha论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyAtkinson, T. Prescott论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Birmingham, AL USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanySchroeder, Harry W., Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Birmingham, AL USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyNiehues, Tim论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Helios Kliniken, Krefeld, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyDueckers, Gregor论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Helios Kliniken, Krefeld, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyStray-Pedersen, Asbjorg论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyBaumann, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Hannover, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanySchmidt, Reinhold论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Hannover, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyFranco, Jose L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Grp Primary Immunodeficiencies, Medellin, Colombia Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyOrrego, Julio论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Grp Primary Immunodeficiencies, Medellin, Colombia Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyBen-Shoshan, Moshe论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Div Pediat Allergy & Clin Immunol, Montreal, PQ, Canada Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyMcCusker, Christine论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Ctr Hlth, Div Pediat Allergy & Clin Immunol, Montreal, PQ, Canada Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyJacob, Cristina Miuki Abe论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyCarneiro-Sampaio, Magda论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyDevlin, Lisa A.论文数: 0 引用数: 0 h-index: 0机构: Royal Grp Hosp, Immunol Day Ctr, Belfast, Antrim, North Ireland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyEdgar, J. David M.论文数: 0 引用数: 0 h-index: 0机构: Royal Grp Hosp, Immunol Day Ctr, Belfast, Antrim, North Ireland Queens Univ Belfast, Belfast, Antrim, North Ireland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyHenderson, Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Child Life & Hlth, Edinburgh, Midlothian, Scotland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyRussell, Richard K.论文数: 0 引用数: 0 h-index: 0机构: Royal Hosp Sick Children, Dept Paediat Gastroenterol, Glasgow G3 8SJ, Lanark, Scotland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanySkytte, Anne-Bine论文数: 0 引用数: 0 h-index: 0机构: Aarhus Univ Hosp, Dept Genet, DK-8000 Aarhus, Denmark Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanySeneviratne, Suranjith L.论文数: 0 引用数: 0 h-index: 0机构: UCL, Royal Free Hosp, London, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyWanders, Jennifer论文数: 0 引用数: 0 h-index: 0机构: UCL, Royal Free Hosp, London, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyStauss, Hans论文数: 0 引用数: 0 h-index: 0机构: UCL, Royal Free Hosp, London, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyMeyts, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Leuven, Dept Pediat, Leuven, Belgium Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyMoens, Leen论文数: 0 引用数: 0 h-index: 0机构: Katholieke Univ Leuven, Dept Microbiol & Immunol, Expt Immunol Lab, Leuven, Belgium Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyJesenak, Milos论文数: 0 引用数: 0 h-index: 0机构: Comenius Univ, Jessenius Fac Med, Dept Pediat, Ctr Diag & Treatment Primary Immunodeficiencies, Martin, Slovakia Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyKobbe, Robin论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Paediat, Hamburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyBorte, Stephan论文数: 0 引用数: 0 h-index: 0机构: Clin St Georg, Immuno Deficiency Ctr Leipzig, Leipzig, Germany Univ Leipzig, Translat Ctr Regenerat Med, D-04109 Leipzig, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyBorte, Michael论文数: 0 引用数: 0 h-index: 0机构: Clin St Georg, Immuno Deficiency Ctr Leipzig, Leipzig, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyWright, Dowain A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Cent Calif, Div Rheumatol & Immunol, Madera, CA USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyHagin, David论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Seattle Childrens Res Inst, Seattle, WA USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyTorgerson, Troy R.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat & Immunol, Seattle, WA 98195 USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, GermanyGrimbacher, Bodo论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany UCL, Royal Free Hosp, London, England Standort Freiburg, DZIF Ctr, Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Engesser Str 4, D-79108 Freiburg, Germany
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- [46] The Extended Clinical Phenotype of 36 Patients with Chronic Mucocutaneous Candidiasis Due to Gain-of-Function Mutations in STAT1JOURNAL OF CLINICAL IMMUNOLOGY, 2014, 34 : S339 - S340Frede, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyDepner, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyRaabe, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyDoffinger, R.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Immunol, Cambridge, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyGkrania-Klotsas, E.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Cambridge, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyKumararatne, D.论文数: 0 引用数: 0 h-index: 0机构: Addenbrookes Hosp, Dept Immunol, Cambridge, England Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyAtkinson, T. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Dept Pediat, Birmingham, AL USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanySchroeder, H. W.论文数: 0 引用数: 0 h-index: 0机构: Univ Alabama Birmingham, Div Clin Immunol & Rheumatol, Birmingham, AL USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyNiehues, T.论文数: 0 引用数: 0 h-index: 0机构: HELIOS Klin, Dept Pediat, Krefeld, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyDueckers, G.论文数: 0 引用数: 0 h-index: 0机构: HELIOS Klin, Krefeld, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyPuck, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyEisenstein, E. M.论文数: 0 引用数: 0 h-index: 0机构: Hadassah Hebrew Univ, Med Ctr Mt Scopus Campus, Dept Pediat, Jerusalem, Israel Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyStray-Pedersen, A.论文数: 0 引用数: 0 h-index: 0机构: Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyBaumann, U.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Paediat Pulmonol & Neonatal, Hannover, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanySchmidt, R. E.论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Dept Immunol & Rheumatol, Hannover, Germany Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyFranco, J. L.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Grp Primary Immunodeficiencies, Medellin, Colombia Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyOrrego, J. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Antioquia, Grp Primary Immunodeficiencies, Medellin, Colombia Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyBen-Shoshan, M.论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Montreal Childrens Hosp, Montreal, PQ H3H 1P3, Canada Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany论文数: 引用数: h-index:机构:Jacob, C. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Allergy & Immunol Unit, Sao Paulo, Brazil Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyCarneiro-Sampaio, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Pediat, Sao Paulo, Brazil Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyDevlin, L. A.论文数: 0 引用数: 0 h-index: 0机构: Royal Grp Hosp, Immunol Day Ctr, Belfast, Antrim, North Ireland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyEdgar, J. D.论文数: 0 引用数: 0 h-index: 0机构: Royal Belfast Hosp Sick Children, Dept Immunol, Belfast, Antrim, North Ireland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyHenderson, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Edinburgh, Dept Child Life & Hlth, Edinburgh, Midlothian, Scotland Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanyDyrso, T.论文数: 0 引用数: 0 h-index: 0机构: Vejle Hosp, Dept Clin Genet, Vejle, Denmark Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, Freiburg, GermanySeneviratne, S. 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