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

共 50 条

[11] Curation and expansion of Human Phenotype Ontology for Systemic Auto inflammatory Disease SAID improves phenotype-driven disease matching
Maassen, Kars
Legger, Elizabeth
Cinar, Ovgu Kul
van Daele, Paul
Gattorno, Marco
Bader-Meunier, Brigitte
Wouters, Carine
Briggs, Tracy
Johansson, Lennart
Van der Velde, Joeri
Swertz, Morris
Omoyinmi, Ebun
Hoppenreijs, Esther
Eleftheriou, Despina
Caorsi, Roberta
Aeschlimann, Florence
van Nieuwenhove, Erika
Boursier, Guilaine
Brogan, Paul
Haimel, Matthias
van Gijn, Marielle E.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 448 - 449
[12] Conversations with Founders of the Field of Human Inborn Errors of Immunity
Rebecca H. Buckley
Journal of Clinical Immunology, 2020, 40 : 1 - 8
[13] Conversations with Founders of the Field of Human Inborn Errors of Immunity
Buckley, Rebecca H.
JOURNAL OF CLINICAL IMMUNOLOGY, 2020, 40 (01) : 1 - 8
[14] Genetics of inborn errors of immunity
Atschekzei, Faranaz
Schuermann, Gesine
ZEITSCHRIFT FUR RHEUMATOLOGIE, 2022, 81 (04): : 328 - 331
[15] Update on inborn errors of immunity
Ijspeert, Hanna
Edwards, Emily S. J.
O'Hehir, Robyn E.
Dalm, Virgil A. S. H.
van Zelm, Menno C.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2025, 155 (03) : 740 - 751
[16] The lung in inborn errors of immunity
Restrepo-Gualteros, Sonia
Nino, Gustavo
Gutierrez, Maria J.
PEDIATRIC PULMONOLOGY, 2024,
[17] database for inborn errors of immunity
Caballero-Oteyza, Andres
Crisponi, Laura
Peng, Xiao P.
Yauy, Kevin
Volpi, Stefano
Giardino, Stefano
Freeman, Alexandra F.
Grimbacher, Bodo
Proietti, Michele
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2024, 153 (03) : 831 - 843
[18] Thymic inborn errors of immunity
Pala, Francesca
Notarangelo, Luigi D.
Lionakis, Michail S.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, 2025, 155 (02) : 368 - 376
[19] Inborn errors of immunity and protozoa
de Gouveia-Pereira Pimentel, Mariana
Aranda, Carolina Sanchez
Puccini, Pedro Fiorini
da Silva, Celso Jose Mendanha
Lopes, Leticia Helena Caldas
Villalba-Aleman, Evaristo
Gava, Ricardo
de Souza, Thiago Kury Moreno
Teixeira, Lara Novaes
Salvador, Luiza Schimd
Sole, Dirceu
Tolezano, Jose Eduardo
Teixeira, Marta Maria Geraldes
PEDIATRIC ALLERGY AND IMMUNOLOGY, 2024, 35 (07)
[20] Malignancies in the inborn errors of immunity
Goudouris, Ekaterini Simoes
Felix, Mara Morelo Rocha
Kuschnir, Fabio Chigres
Sole, Dirceu
REVISTA DA ASSOCIACAO MEDICA BRASILEIRA, 2024, 70

← 1 2 3 4 5 →