Institut des Maladies Génétiques Imagine

Intermittent or Continuous Renal-Replacement Therapy in Acute Kidney Injury

BackgroundThe preferred method of renal-replacement therapy for acute kidney injury in critically ill patients remains uncertain. MethodsIn this multicenter, open-label, noninferiority trial, we randomly assigned critically ill adults with acute kidney injury who had indications...

Autoimmune and inflammatory diseases associated with T-cell clonal expansion

Autoimmune and inflammatory diseases (AID) result from a breakdown of immune tolerance, often driven by T-cell dysregulation and sometimes associated with clonal T-cell expansion. While T-cell large granular lymphocyte leukemia (LGL-L) is a well-defined clonal disorder commonly a...

Autoantibodies neutralizing type I IFNs underlie ~5% of herpes simplex encephalitis in adults.

Inborn errors of type I interferon (IFN-I) immunity account for ∼7-8% of herpes simplex encephalitis (HSE) cases in young children, but the pathogenesis of HSE in adults is largely unknown. We report that IFN-I autoantibodies (auto-Abs) in serum/plasma samples drawn before, durin...

Exploring needs and priorities in digital health management for rare disease patients and their caregivers: A mixed-methods study

Rare diseases affect millions worldwide and are associated with long diagnostic delays, limited access to treatments, and substantial challenges in daily care and coordination. Digital health technologies, including mobile apps, tele health, and data‑sharing platforms, offer oppo...

What can we learn on ALS pathophysiology from iPSC-derived motor neurons harbouring TARBDP mutations: a systematic review

The degenerating motor neurons of amyotrophic lateral sclerosis (ALS) patients are characterized by the accumulation of cytoplasmic aggregates, specifically enriched in ubiquitinated TDP-43. Expressed mainly in the nucleus and partially in the cytoplasm to execute its role in RNA...

Anti-thymocyte globulin triggers TNF-dependent cell death in T-cell acute lymphoblastic leukemia

T-cell acute lymphoblastic leukemia (T-ALL) accounts for one of the most aggressive hematological tumors associated with poor prognosis, notably for relapsed and refractory patients. Hence, an unmet medical need persists for T-ALL patients who fail to durably respond to conventio...

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

Abstract We previously reported inherited RORγT deficiency in seven patients from three ancestries (Chilean, Palestinian, Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgh...

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/ DFNB ‐Related Genes: An Impossible Challenge?

As our results show that very few published variants could currently be considered causative of DFNB due to lack of precise clinical studies, strict and uniform criteria should be applied by authors publishing on USH/DFNB genes.

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

Paediatric therapeutic development workshop on osteosarcoma

The fourth Paediatric Therapeutic Development Workshop focused on osteosarcoma, the most common primary bone cancer in children and young adults. Current treatment of osteosarcoma comprises surgery and chemotherapy. Outcome has shown very little improvement over the last four dec...

Ciliogenic pancreatopathy reveals a link between ciliopathies and exocrine pancreatic disease

Abstract Background While pancreatic cysts have been described in syndromic ciliopathies, the pancreas is not commonly recognized as a target organ. However, several ciliary gene knockout mouse models develop a pancreatic phenotype combining acinar atrophy and adipocyte accumulat...

Autoantibodies neutralizing type I interferons underlie a third of cases of Chikungunya virus encephalitis or myelitis

Abstract Chikungunya virus (CHIKV) infection is typically not life-threatening but may, in rare cases, affect the central nervous system (CNS). In three cohorts of confirmed CHIKV cases from Martinique (French overseas territory) and Brazil (patients aged 0–89 years, n = 245), 20...

When Vocabulary Breaks Communication: A Community Workshop to Map Terms, Techniques, and Artifacts Across Disciplines

Across Human Factors Engineering, UX, CX, HCD, HSI, and related disciplines, teams frequently use different words for similar concepts, or the same words for very different work. The result: hiring confusion, mismatched expectations, unclear deliverables, and difficulty explainin...