Publications by authors named "E P A H Hoppenreijs"
Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed "deficiency in ELF4, X-linked" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses.
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- Accurate and standardized phenotypic descriptions are crucial for diagnosing rare diseases, leading to the development of the Human Phenotype Ontology (HPO) system, which organizes these descriptions hierarchically.
- This study investigates whether improved HPO terms for systemic autoinflammatory diseases (SAIDs) enhance the identification of these conditions among patients.
- Results indicate that HPO curation significantly boosted correct SAID diagnoses from 66% to 86% and streamlined genome diagnostics, reducing the average candidate diseases for interpretation from 35 to 2.
Background: Biologic disease-modifying antirheumatic drugs (bDMARDs) have changed the treatment of juvenile idiopathic arthritis (JIA) patients notably, as bDMARDs enable substantially more patients to achieve remission. When sustained remission is achieved, tapering or even discontinuation of the bDMARD is advocated, to reduce side effects and costs. However, when and how to discontinue bDMARD therapy and what happens afterwards, is less known.
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- A study investigates the impact of evaluating rare de novo variants (DNVs) in whole exome sequencing (WES) for patients suspected of having inborn errors of immunity (IEI).
- In a cohort of 123 patients, systematic assessment of DNVs led to identifying 14 potential candidates linked to immune functions, resulting in molecular diagnoses for some patients.
- The research advocates for incorporating trio-based sequencing in routine diagnostics, providing evidence that certain loss-of-function mutations contribute to autoinflammatory diseases.
3D stereophotogrammetry in children and adolescents with Scleroderma En Coup De Sabre/Parry-Romberg Syndrome: Description of a novel method for monitoring disease progression.
Skin Health Dis
September 2022
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 study aims to describe the contribution of 3D photographs in the assessment of the degree of facial asymmetry changes over time in growing children and adolescents with ECDS and PRS.