Hereditary angioedema in children: Review and practical perspective for clinical management.

Background: Hereditary angioedema (HAE) in children has specific features and requires multidisciplinary management.

Methods: We performed a literature search and underwent in-depth discussions to provide practical tools for physicians.

Results: HAE is a rare, life-threatening genetic disorder.

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.

Clinical spectrum and outcome of Takayasu's arteritis in children.

Objectives: We aimed to compare clinical spectrum and outcome between adults and children with Takayasu's arteritis (TAK) in a European population.

Methods: We made a nationwide retrospective observational study between 1988 and 2019. All adult patients met the ACR diagnostic criteria for TAK and all children met the EULAR/PRINTO/PRES criteria for paediatric TAK.

Extra-osseous manifestations in chronic recurrent multifocal osteomyelitis: a retrospective study.

Objectives: Extra-osseous (EO) manifestations are poorly characterized in chronic recurrent multifocal osteomyelitis (CRMO). This study aimed to further define the frequency, characteristics and treatment of EO events in CRMO and whether different phenotypes can be distinguished and benefit from special management.

Methods: This multicentre retrospective study included CRMO patients followed in several paediatric rheumatology departments in France between 2015 and 2022.

Individual and environmental determinants associated with longer times to access pediatric rheumatology centers for patients with juvenile idiopathic arthritis, a JIR cohort study.

Background: Despite guidelines, poor access to appropriate care for juvenile idiopathic arthritis (JIA) patients remains a global issue. Prompt referral to a pediatric rheumatology (PR) center and effective care is known to be critical for changing the natural history of the disease and improving long-term prognosis. This project assesses socio-economic factors of delayed referral to a pediatric rheumatologist (PRst) for JIA patients in France and Switzerland within the Juvenile Inflammatory Rheumatism (JIR) Cohort.

Socio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood.

Objectives: Cryopyrin-associated periodic syndromes (CAPS) belongs to the group of hereditary recurrent fever disorders characterised by interleukin1β-mediated systemic inflammation. Specific treatment by IL-1 targeting drugs has significantly modified the disease evolution. We aimed to evaluate the socio-professional impact of CAPS in the long term and the influence of genetic variants in the phenotype.

Impact of time to diagnosis on the occurrence of cardiogenic shock in MIS-C post-COVID-19 infection.

Background: In multisystem inflammatory syndrome in children (MIS-C), diagnostic delay could be associated with severity. This study aims to measure the time to diagnosis in MIS-C, assess its impact on the occurrence of cardiogenic shock, and specify its determinants.

Methods: A single-center prospective cohort observational study was conducted between May 2020 and July 2022 at a tertiary care hospital.

[The transitional care from pediatrics to adult medicine within the rare autoimmune and autoinflammatory diseases network].

The committee involved in transitional care within the French network on rare autoimmune and auto-inflammatory diseases has developed tools and published recommendations for the care during the transition of adolescents and young adults suffering from these chronic diseases which often demonstrate flares. As the challenge is the compliance to the continuation of care in the adult world, the therapeutic alliance between the young patient and his/her pediatrician and then his/her adult doctor is particularly important. The working group thus carried out a survey on how doctors and young patients perceive their relationship during the period of transition in medical supervision.

JAK inhibitors in difficult-to-treat adult-onset Still's disease and systemic-onset juvenile idiopathic arthritis.

Objectives: Excessive and inappropriate production of pro-inflammatory cytokines plays a key role in Still's disease. Janus kinase inhibitor (JAKi) agents mainly block pro-inflammatory cytokine pathways, notably IL-6 and IFN. The objective was to assess the efficacy and safety of JAKi agents in difficult-to-treat systemic JIA or adult-onset Still's disease (AOSD).

Therapeutic alliance is associated to treatment adherence in children with juvenile idiopathic arthritis.

Objectives: Therapeutic alliance (TA) is the agreement between caregiver and patient during the care process. Therapeutic adherence is a major issue for the management of Juvenile Idiopathic Arthritis (JIA) requiring child's strong ability to follow treatments. The aim of this study was to evaluate the relationship between TA and adherence in patients with JIA.

Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.

Background: Systemic lupus erythematosus (SLE) is a rare immunological disorder and genetic factors are considered important in its causation. Monogenic lupus has been associated with around 30 genotypes in humans and 60 in mice, while genome-wide association studies have identified more than 90 risk loci. We aimed to analyse the contribution of rare and predicted pathogenic gene variants in a population of unselected cases of childhood-onset SLE.

Usefulness and safety of anakinra in refractory Kawasaki disease complicated by coronary artery aneurysm.

Kawasaki disease is an acute self-limited vasculitis of unknown aetiology. The prognosis depends mainly on coronary damage. There is no consensus regarding optimal adjunctive therapeutics for refractory forms to treatment by intravenous immunoglobulins and corticosteroids.

Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus.

Objective: Studies of early-onset systemic lupus erythematosus (SLE) have identified monogenic forms of the disease. The primary objective of this study was to compare the clinical and laboratory features of the first patients included in the GENIAL/LUMUGENE cohort to those reported in previous publications. The secondary objective was to determine whether subgroups with a distinctive pattern of clinical and biological features are seen in predominantly genetic forms of SLE.

PRKDC mutations associated with immunodeficiency, granuloma, and autoimmune regulator-dependent autoimmunity.

Background: PRKDC encodes for DNA-dependent protein kinase catalytic subunit (DNA-PKcs), a kinase that forms part of a complex (DNA-dependent protein kinase [DNA-PK]) crucial for DNA double-strand break repair and V(D)J recombination. In mice DNA-PK also interacts with the transcription factor autoimmune regulator (AIRE) to promote central T-cell tolerance.

Objective: We sought to understand the causes of an inflammatory disease with granuloma and autoimmunity associated with decreasing T- and B-cell counts over time that had been diagnosed in 2 unrelated patients.