Allogeneic hematopoietic stem cell transplantation for severe Still's disease: a retrospective report of 3 pediatric patients.

Objectives: Severe forms of systemic juvenile idiopathic arthritis (sJIA), also called pediatric-onset Still's disease are associated with two major life-threatening complications: macrophage activation syndrome (MAS) and severe lung disease. Patients are usually resistant to conventional synthetic (cs) Disease-Modifying Antirheumatic Drugs (DMARDs), biologic (b) DMARDs, and targeted synthetic (ts) DMARDs. Recently, allogeneic hematopoietic stem cell transplantation (HSCT) has been performed in a small number of patients with refractory and life-threatening disease.

EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update.

Objectives: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease despite being a rare disease for many rheumatologists. These evidence-based recommendations update the ones issued in 2016 to account for the recent developments in the field and aim to guide rheumatologists and other health professionals in the treatment and follow-up of patients with FMF.

Methods: A multidisciplinary panel was assembled, including rheumatologists, internists, paediatricians, a nephrologist, an occupational therapist, a physiotherapist, 2 methodologists, and 2 patient representatives, all from the Eastern Mediterranean area and Europe.

Serum interleukin-18 levels are specifically elevated in auto-inflammatory diseases involving the pyrin inflammasome: A study on 516 patients.

Auto-inflammatory diseases (AIDs) are characterized by excessive activation of innate immunity. Current biomarkers, such as C-reactive protein (CRP) and serum Amyloid A (SAA), are not disease-specific and cannot reflect disease severity. Interleukin-18 (IL-18), a pro-inflammatory cytokine of the IL-1 superfamily, has been recently studied as, biomarker for AIDs; This study aims to evaluate total serum IL-18 levels in a large cohort of AID patients from the adult French national reference center for AID.

The needed daily dose of colchicine in patients with Familial Mediterranean Fever may be higher in women: a study on behalf of the JIR cohort.

Background: At present, there are no data on the relationship between colchicine dose and weight in patients with Familial Mediterranean Fever (FMF). We aimed at describing the daily colchicine dose in a cohort of FMF patients.

Methods: From 2016 to 2023, a retrospective evaluation of prospectively followed homozygous FMF patients at the French National Reference Centre was performed.

Systemic Inflammatory Diseases in Children With Sickle Cell Disease: A French Multicenter Observational Study on Diagnostic and Therapeutic Issues.

Background: Systemic inflammatory diseases (SIDs) have been reported in patients with sickle cell disease (SCD), but clinical data in children are scarce.

Objectives: To identify clinical and laboratory features at diagnosis of SID in children with SCD and to describe their evolution.

Methods: Data from children with SCD and SIDs were retrospectively collected in a French multicenter study from 1991 to 2018.

Scurvy in an 18-month-old child mimicking a clinical presentation of rickets.

Scurvy is now considered to be a rare disease in European countries, even among children, but it still exists. We report the case of an 18-month-old boy who was initially hospitalized for a walking disorder and ultimately diagnosed with scurvy. Radiographs were compatible with rickets, but biological analysis ruled out this diagnosis.

New Diseases Linked to MEFV Variants or Pyrinopathies.

Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response.

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.

Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.

Pediatric teledermatology: Evaluation of a store-and-forward network in Ile-de-France from 2013 to 2022: Pediatric teledermatology, a store-and-forward network.

Background: Teledermatology has been widely deployed over the past decade in France, becoming an indispensable tool in daily practice. Pediatric dermatology is a subspecialty of dermatology limited to a small number of specialists. In 2013, the Argenteuil Hospital developed a structured store-and-forward (SAF) service that is particularly well-suited for the field of pediatric dermatology.

The place of JAK inhibitors in systemic juvenile idiopathic arthritis with lung disease (SJIA-LD): French experience.

Objectives: A new form of systemic juvenile idiopathic arthritis (SJIA) with associated lung disease (SJIA-LD) has recently been described. Multiple lines of treatment have failed to yield satisfactory results for this disorder. JAK inhibitors (JAKis) have recently been approved for the treatment of JIA, but clinical evidence of their efficacy in SJIA-LD is still weak.

Physical fitness in adolescent patients with familial Mediterranean fever.

Introduction: Familial Mediterranean fever (FMF) is the most frequent monogenic auto-inflammatory disease worldwide responsible for episodes of fever, serositis and musculoskeletal symptoms. Inflammatory attacks are responsible for sedentary behavior and FMF patients may be at increased cardiovascular risk. Cardiorespiratory Fitness (CRF) and physical capacities during adolescence are associated with cardiovascular mortality in adulthood.

Canakinumab treatment real world evidence in 3 monogenic periodic fever syndromes in 2009-2022: an interim analysis using the French JIR cohort database.

Background: Our study aimed to provide real-world evidence on the treatment patterns, effectiveness and safety of canakinumab in France in Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD), and Tumor necrosis factor Receptor Associated Periodic Syndrome (TRAPS).

Methods: This study used the JIR cohort, a multicentre international registry created in 2013 to collect data on patients with juvenile inflammatory rheumatic diseases. French patients diagnosed with FMF, MKD or TRAPS and treated with canakinumab were included in this study.

A20 Haploinsufficiency: A Systematic Review of 177 Cases.

A20 haploinsufficiency is an autoinflammatory disease caused by defective inactivation of the NF-κB pathway. We conducted a systematic literature review of articles reporting patients with TNFAIP3 sequence variants from 2016 to August 2023 following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Data from 177 patients from 65 articles were retrieved (108 women).

Treat-to-target strategies for the management of familial Mediterranean Fever in children.

Background: The objective of this initiative was to develop a treat-to-target (T2T) approach for the management of patients with Familial Mediterranean Fever (FMF), including the definition of a complex treatment target, and establish strategies that improve patient care and long-term outcome.

Methods: An initial set of statements as well as a flow chart visualising the proposed concept was developed. To adapt the preliminary statements to the current state of knowledge, a systematic literature search was performed and the modified statements were subject to a Delphi approach.

Histamine elevation in familial Mediterranean fever: A study from the Juvenile Inflammatory Rheumatism cohort.

Background: Familial Mediterranean Fever (FMF) is the most frequent monogenic autoinflammatory disease (AID). Some patients have persistent symptoms despite colchicine intake. Mast cells (MC) are innate immune cells involved in inflammatory conditions including AID.

Successful treatment of JAK1-associated inflammatory disease.

Background: Gain-of-function variants of JAK1 drive a rare immune dysregulation syndrome associated with atopic dermatitis, allergy, and eosinophilia.

Objectives: This study sought to describe the clinical and immunological characteristics associated with a new gain-of-function variant of JAK1 and report the therapeutic efficacy of Janus kinase (JAK) inhibition.

Methods: The investigators identified a family affected by JAK1-associated autoinflammatory disease and performed clinical assessment and immunological monitoring on 9 patients.