Curation and Expansion of Human Phenotype Ontology for Inborn Errors of Immunity

被引：0

作者：

Pazmandi, Julia ^{[1
]}

Haimel, Matthias ^{[2
]}

Mayr, Daniel ^{[2
]}

Berner, Jakob ^{[3
]}

Heredia, Raul Jimenez

Dmytrus, Jasmin ^{[2
]}

Bal, Sevgi

Zoghi, Samaneh

Van Daele, Paul ^{[4
]}

Briggs, Tracy ^{[5
]}

Wouters, Carine ^{[6
]}

Bader-Meunier, Brigitte ^{[7
]}

Aeschlimann, Florence ^{[8
]}

Caorsi, Roberta ^{[9
]}

Eleftheriou, Despina ^{[10
]}

Hoppenreijs, Esther ^{[11
]}

Salzer, Elisabeth

Bakhtiar, Shahrzad ^{[12
]}

Derfalvi, Beata ^{[13
]}

Saettini, Francesco ^{[14
]}

Kusters, Maaike A. ^{[15
,16
]}

Elfeky, Reem ^{[15
,16
]}

Trueck, Johannes ^{[17
]}

Riviere, Jacques ^{[18
]}

van der Burg, Mirjam ^{[19
]}

Gattorno, Marco

Seidel, Markus ^{[20
]}

Burns, Siobhan ^{[21
]}

Warnatz, Klaus ^{[22
]}

Hauck, Fabian ^{[23
]}

Brogan, Paul ^{[24
]}

Hambleton, Sophie ^{[25
]}

Gilmour, Kimberly ^{[26
]}

Schuetz, Catharina ^{[27
]}

Simon, Anna ^{[28
]}

Bock, Christoph ^{[29
]}

de Vries, Esther ^{[30
]}

Robinson, Peter ^{[31
]}

Van Gijn, Marielle ^{[32
]}

Boztug, Kaan ^{[1
,33
,34
]}

机构：

[1] Austrian Acad Sci, St Anna Childrens Canc Res Inst, CeMM Res Ctr Mol Med, Vienna, Austria

[2] Austrian Acad Sci, Ludwig Boltzmann Inst Rare & Undiagnosed Dis, St Anna Childrens Canc Res Inst, CeMM Res Ctr Mol Med, Vienna, Austria

[3] St Anna Childrens Hosp Vienna, St Anna Childrens Res Inst Vienna, Vienna, Austria

[4] Erasmus MC, Rotterdam, Netherlands

[5] Univ Manchester, Manchester Univ NHS Fdn Trust Sch Biol Sci, St Marys Hosp, Manchester Ctr Genom Med,NW Genomic Lab Hub, Manchester, Lancs, England

[6] Katholieke Univ Leuven, Univ Hosp Leuven, Leuven, Belgium

[7] Necker Hosp Sick Children, AP HP, Autoimmune & System Dis Children RAISE, France Reference Ctr Rheumat, Paris, France

[8] IRCCS Ist Giannina Gaslini, Ctr Autoinflammatory Dis & Immunodeficiency, Genoa, Italy

[9] Univ Coll London Great Ormond St Inst Child Hlth, Great Ormond St GOS Hosp Children NHS Fdn Trus, London, England

[10] Univ Med Ctr, Nijmegen, Netherlands

[11] Goethe Univ, Frankfurt, Germany

[12] Univ IWK Hlth Ctr Halifax, Halifax, NS, Canada

[13] Univ Milano Bicocca, Fdn MBBM, Via Pergolesi 33, Monza, Italy

[14] Univ Childrens Hosp Zurich, Zurich, Switzerland

[15] Univ Autonoma Barcelona, Vall dHebron Res Inst, Hosp Univ Vall dHebron, Barcelona, Spain

[16] Jeffrey Model Fdn Excellence Ctr, Barcelona, Spain

[17] Univ Med Ctr Rotterdam, Rotterdam, Netherlands

[18] Leiden Univ, Med Ctr, Leiden, Netherlands

[19] Med Univ Graz, Graz, Austria

[20] Royal Free Hosp NHS Fdn Trust, UCL Inst Immun Transplantat, London, England

[21] Univ Freiburg, Med Ctr Univ Freiburg, Ctr Chron Immunodeficiency, Freiburg, Germany

[22] Dr Hauner Childrens Hosp Munich, Munich, Germany

[23] Newcastle Univ, Translat & Clin Res Inst, Newcastle Upon Tyne, Tyne & Wear, England

[24] Great Ormond St GOS Hosp Children NHS Fdn Trust, London, England

[25] Tech Univ Dresden, Med Fac Carl Gustav Carus, Dresden, Germany

[26] Radboud Univ Nijmegen, Radboudumc Expertise Ctr Immunodeficiency & Autoi, Nijmegen Med Ctr, Nijmegen, Netherlands

[27] Austrian Acad Sci, Ludwig Boltzmann Inst Rare & Undiagnosed Dis, CeMM Res Ctr Mol Med, Vienna, Austria

[28] Tilburg Univ, ElisabethTweesteden Hosp, Tilburg, Netherlands

[29] Jackson Lab GenomicMedicine, Farmington, CT USA

[30] Univ Med Ctr Groningen, Groningen, Netherlands

[31] Ludwig Boltzmann Inst Rare & Undiagnosed Dis, Vienna, Austria

[32] St Anna Childrens Canc Res Inst CCRI, Vienna, Austria

[33] CeMM Res Ctr Mol Med Austrian Acad Sci, Vienna, Austria

[34] Med Univ Vienna, St Anna Childrens Hosp, Vienna, Austria

来源：

JOURNAL OF CLINICAL IMMUNOLOGY | 2022年 / 42卷 / SUPPL 1期

关键词：

Human Phenotype Ontology; Inborn errors of Immunity; Autoinflammation; Autoimmunity; Immune dysregulation;

D O I：

暂无

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

190

引用

页码：S109 / S110

页数：2

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