Esther Hoppenreijs

Impact of Interleukin‐1 Blockade on the Development of Macrophage Activation Syndrome in Still Disease: Incidence and Diagnostic Validity of the EULAR / ACR / PRINTO 2016 MAS Classification Criteria

Remco Erkens, Greta Rogani, Laura Huber, Anouk Verwoerd et autres

OBJECTIVE: To evaluate the applicability of the 2016 European Alliance of Associations for Rheumatology (EULAR)/American College of Rheumatology (ACR)/Paediatric Rheumatology International Trials Organisation (PRINTO) macrophage activation syndrome (MAS) classification criteria in patients with Still disease and systemic juvenile idiopathic arthritis (sJIA-SD) treated …

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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Emil E. Vorsteveld, Caspar I. van der Made, Sanne P. Smeekens, Janneke Schuurs-Hoeijmakers et autres

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use and re-use of exome sequencing is still emerging. We revisited clinical exome data from 1300 IEI patients using an updated in silico IEI gene …

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Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

W Maassen, G. Elizabeth Legger, Ovgu Kul Cınar, Paul Van Daele et autres

Introduction: Accurate and standardized phenotypic descriptions are essential in diagnosing rare diseases and discovering new diseases, and the Human Phenotype Ontology (HPO) system was developed to provide a rich collection of hierarchical phenotypic descriptions. However, although the HPO terms for inborn errors …

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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Anne Hebert, Annet Simons, Janneke Schuurs-Hoeijmakers, Hans JPM Koenen et autres

Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential added value of systematic assessment of DNVs in …

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Author response: Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Anne Hebert, Annet Simons, Janneke Schuurs-Hoeijmakers, Hans J. P. M. Koenen et autres

Systematic assessment of de novo variants in patients with sporadic inborn errors of immunity led to the identification of promising candidate variants in known and novel immune genes, supporting its implementation in the routine diagnostic evaluation of these patients.

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3D Stereophotogrammetry in Children and Adolescents with Scleroderma En Coup De Sabre/Parry-Romberg Syndrome: Description of a Novel Method for Monitoring Disease Progression

Rutger ter Horst, Thomas Maal, M.J.J. de Koning, Jorre S. Mertens et autres

Background: The diagnosis of Scleroderma En Coup de Sabre (ECDS)/Parry Romberg Syndrome (PRS) is mainly based on characteristic clinical findings. Methods to objectively monitor the course of the disease in a standardized way are lacking. Objectives: This descriptive, retrospective, single centre cohort …

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Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort study

Anne Hebert, Annet Simons, Janneke Schuurs-Hoeijmakers, Hans J. P. M. Koenen et autres

Abstract Background D e novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods This study explored the potential added value of systematic assessment of …

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POS0178 GENE SIGNATURE FINGERPRINTS DIVIDE SLE PATIENTS IN SUBGROUPS WITH COMPARABLE BIOLOGICAL DISEASE PROFILES: A MULTICENTRE LONGITUDINAL STUDY

M. J. Wahadat, Cornelia G van Helden-Meeuwsen, Sanne van Tilburg, Ellen Schatorjé et autres

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Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity

Matthias Haimel, Júlia Pázmándi, Raúl Jiménez Heredia, Jasmin Dmytrus et autres

BACKGROUND: Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions …

at, nl, gb, be, us, fr, it, de, ca, ch, es (code pays fourni par la source)

Functional Asplenia and Specific Polysaccharide Antibody Deficiency in a Girl with SAVI

Else M. Bijker, Berenice Rösler, Esther Hoppenreijs, Stefanie Henriet et autres

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INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

Riccardo Papa, Thirusha Lane, Kirsten Minden, Isabelle Touitou et autres

it, gb, de, fr, nl, es, pl, hr, ar, ru, us (code pays fourni par la source)

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Peer Arts, Annet Simons, Mofareh AlZahrani, Elanur Yılmaz et autres

BACKGROUND: Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of patients in a single genetic test. METHODS: In May 2013, we …

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