The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

被引:418
作者
Seidel, Markus G. [1 ]
Kindle, Gerhard [2 ,3 ]
Gathmann, Benjamin [2 ]
Quinti, Isabella [4 ]
Buckland, Matthew [5 ,6 ]
van Montfrans, Joris [7 ]
Scheible, Raphael [2 ]
Ruschb, Stephan [2 ,3 ]
Gasteiger, Lukas M. [1 ]
Grimbacher, Bodo [2 ,8 ,9 ,10 ]
Mahlaoui, Nizar [11 ,12 ]
Ehl, Stephan [13 ]
Abinun, Mario
Albert, Michael
Cohen, Sarah Beaussant
Bustamante, Jacinta
Cant, Andrew
Casanova, Jean-Laurent
Chapel, Helen
de Saint Basile, Genevieve
de Vries, Esther
Dokal, Inderjeet
Donadieu, Jean
Durandy, Anne
Edgar, David
Espanol, Teresa
Etzioni, Amos
Fischer, Alain
Gaspar, Bobby
Gatti, Richard
Gennery, Andrew
Grigoriadou, Sofia
Holland, Steven
Janka, Gritta
Kanariou, Maria
Klein, Christoph
Lachmann, Helen
Lilic, Desa
Manson, Ania
Martinez, Natalia
Meyts, Isabelle
Moes, Nicolette
Moshous, Despina
Neven, Benedicte
Ochs, Hans
Picard, Capucine
Renner, Ellen
Rieux-Laucat, Frederic
Seger, Reinhard
Soresina, Annarosa
机构
[1] Med Univ Graz, Res Unit Pediat Hematol & Immunol, Dept Pediat & Adolescent Med, Div Pediat Hematooncol, Graz, Austria
[2] Univ Freiburg, Fac Med, Med Ctr, Inst Immunodeficiency,CCI, Freiburg, Germany
[3] Univ Freiburg, Fac Med, Med Ctr, Cent Facil Biobanking, Freiburg, Germany
[4] Sapienza Univ Rome, Dept Mol Med, Rome, Italy
[5] Great Ormond St Hosp Children NHS Fdn Trust, London, England
[6] UCL Inst Mol & Cellular Immunol, Inst Child Hlth, London, England
[7] UMC Utrecht, Pediat Immunol & Infect Dis, Utrecht, Netherlands
[8] German Ctr Infect Res, Satellite Ctr Freiburg, DZIF, Freiburg, Germany
[9] Albert Ludwigs Univ, CIBSS, Freiburg, Germany
[10] Hanover Med Sch, Satellite Ctr Freiburg, RESIST Cluster Excellence 2155, Freiburg, Germany
[11] Necker Enfants Malades Univ Hosp, AP HP, CEREDIH, French Natl Reference Ctr Primary ImmunoDeficienc, Paris, France
[12] Necker Enfants Malades Univ Hosp, AP HP, Rheumatol Unit, Paris, France
[13] Univ Freiburg, Fac Med, Med Ctr, Ctr Pediat & Adolescent Med, Freiburg, Germany
关键词
Primary immunodeficiency (PID); Primary immune deficiency and immune dysregulation disorder (PIDD); Guideline; Diagnostic algorithm; Classification; Consensus; Registry; Epidemiology; WARNING SIGNS; DISEASES; HISTORY;
D O I
10.1016/j.jaip.2019.02.004
中图分类号
R392 [医学免疫学];
学科分类号
100102 ;
摘要
Patient registries are instrumental for clinical research in rare diseases. They help to achieve a sufficient sample size for epidemiological and clinical research and to assess the feasibility of clinical trials. The European Society for Immunodeficiencies (ESID) registry currently comprises information on more than 25,000 patients with inborn errors of immunity (IEI). The prerequisite of a patient to be included into the ESID registry is an IEI either defined by a defect in a gene included in the disease classification of the international union of immunological societies, or verified by applying clinical criteria. Because a relevant number of patients, including those with common variable immunodeficiency (CVID), representing the largest group of patients in the registry, remain without a genetic diagnosis, consensus on classification of these patients is mandatory. Here, we present clinical criteria for a large number of IEI that were designed in expert panels with an external review. They were implemented for novel entries and verification of existing data sets from 2014, yielding a substantial refinement. For instance, 8% of adults and 27% of children with CVID (176 of 1704 patients) were reclassified to 22 different immunodeficiencies, illustrating progress in genetics, but also the previous lack of standardized disease definitions. Importantly, apart from registry purposes, the clinical criteria are also helpful to support treatment decisions in the absence of a genetic diagnosis or in patients with variants of unknown significance. (C) 2019 American Academy of Allergy, Asthma & Immunology
引用
收藏
页码:1763 / 1770
页数:8
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