Nationwide epidemiological survey of juvenile idiopathic arthritis during transition to young adulthood in Japan using the National Database of Designated Incurable Diseases of Japan.

Objectives We aimed to assess the unmet medical needs of young adult patients with juvenile idiopathic arthritis by evaluating real-world treatment data. Methods We analyzed data on juvenile idiopathic arthritis in the 20-29 age group from the National Database of Designated Incurable Diseases of Japan, which records severe cases or those requiring high-cost medical care registered between April 2018 and March 2020. Results Overall, 322 patients with juvenile idiopathic arthritis transitioning to adulthood were included.

Delayed global standardization and prefectural disparities in systematic lupus erythematosus treatment in Japan: a nationwide study using the National Database of Health Insurance Claims and Specific Health Checkups of Japan.

Objectives: To evaluate the status of the global standardization of, and prefectural differences in, systematic lupus erythematosus (SLE) treatments in Japan.

Methods: The Japanese National Database of Health Insurance Claims and Specific Health Checkups (NDB Japan) was used. A patient with SLE was defined as having a disease with ICD10 code M321 or M329 between April 2019 and March 2020, for which oral corticosteroids (OCS), immunosuppressive agents or biologic agents were prescribed at least once during a given month.

Lymphadenitis caused by in a patient with CARD9 deficiency.

We hereby make the first report of a case of mycosis caused by in CARD9 deficiency. A 40-year-old woman complained of lymph node swellings in the left cervical area. She also had chronic mucocutaneous candidiasis (CMC), and was found to have CARD9 deficiency.

In-depth proteomic analysis of juvenile dermatomyositis serum reveals protein expression associated with muscle-specific autoantibodies.

Objectives: The clinical symptoms and complications of JDM differ depending on the type of muscle-specific autoantibodies (MSAs) present. We aimed to identify protein expression profiles specific for MSAs that characterize various clinical features by comprehensively analyzing the proteins present in the serum of patients with JDM.

Methods: We analysed sera from patients with JDM that were positive for anti-melanoma differentiation-associated protein 5 (MDA5) antibodies (n = 5), anti-nuclear matrix protein 2 (NXP2) antibodies (n = 5) and anti-transcriptional intermediary factor 1 alpha or gamma subunit (TIF1-γ) antibodies (n = 5), and evaluated healthy controls (n = 5) via single-shot liquid chromatography-tandem mass spectrometry (MS) in data-independent acquisition mode, which is superior for comparative quantitative analysis.

Social independence evaluation index for Japanese patients with childhood-onset chronic diseases.

Introduction: This study established an independent evaluation index for patients with childhood-onset chronic diseases in Japan.

Methods: From November to December 2020, three Delphi rounds were conducted. Thirty-nine participants completed at least one survey.

In-Depth Serum Proteomics by DIA-MS with Spectral Libraries Reveals Dynamics during the Active Phase of Systemic Juvenile Idiopathic Arthritis.

In serum proteomics using mass spectrometry, the number of detectable proteins is reduced due to high-abundance proteins, such as albumin. However, recently developed data-independent acquisition mass spectrometry (DIA-MS) proteomics technology has made it possible to remarkably improve the number of proteins in a serum analysis by removing high-abundance proteins. Using this technology, we analyzed sera from patients with systemic juvenile idiopathic arthritis (sJIA), a rare pediatric disease.

Phenotypes of atopic dermatitis up to 36 months of age by latent class analysis and associated factors in Japan.

Background: Atopic dermatitis (AD) in early childhood is the first allergic manifestation in the atopic march. Recently, latent class analysis (LCA) has revealed the presence of AD subgroups in childhood.

Objective: This study aimed to elucidate different AD phenotypes up to 36 months of age and identify factors associated with a particular AD phenotype in early childhood.

Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.

Introduction: Haploinsufficiency of A20 (HA20) is a form of inborn errors of immunity (IEI). IEIs are genetically occurring diseases, some of which cause intestinal dysbiosis. Due to the dysregulation of regulatory T cells (Tregs) observed in patients with HA20, gut dysbiosis was associated with Tregs in intestinal lamina propria.

Transitioning from paediatric to adult rheumatological healthcare: English summary of the Japanese Transition Support Guide.

Issues related to transitioning from paediatric to adult healthcare are currently receiving international attention. In Japan, 1000 patients with childhood-onset chronic rheumatological diseases reach adulthood every year and require transition from care by paediatric to care by adult rheumatologists. Here, we propose a guide for the latter, wherein the adult caregiver poses the clinical questions about transitional support that they need to have answered, and the paediatric caregiver mainly compiles the plans for the transition.

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.

In the present study, we report a human-inherited, impaired, adaptive immunity disorder, which predominantly manifested as a B cell differentiation defect, caused by a heterozygous IKZF3 missense variant, resulting in a glycine-to-arginine replacement within the DNA-binding domain of the encoded AIOLOS protein. Using mice that bear the corresponding variant and recapitulate the B and T cell phenotypes, we show that the mutant AIOLOS homodimers and AIOLOS-IKAROS heterodimers did not bind the canonical AIOLOS-IKAROS DNA sequence. In addition, homodimers and heterodimers containing one mutant AIOLOS bound to genomic regions lacking both canonical motifs.

Checklist for rapid assessment of independence in children with pediatric rheumatic diseases in transition to adult medical care.

Objectives: The Committee for Support of Transition to Adult Medical Care, Pediatric Rheumatology Association of Japan, has developed a checklist for patients with pediatric rheumatologic diseases to evaluate readiness for transition to adult medical care.

Methods: Using checklists for general pediatric chronic diseases developed by researchers at the Ministry of Health, Labour and Welfare, committee members discussed points for modification or addition specific to pediatric rheumatic diseases and pediatric rheumatism clinical practice.

Results: Three patient-assessment checklists based on patient age and understanding level and a parent-assessment checklist were developed.

Clinical practice guidance for Sjögren's syndrome in pediatric patients (2018) - summarized and updated.

There are a considerable number of pediatric patients with Sjögren's syndrome (SS); however, SS is generally considered rare among children. Pediatric patients with SS report fewer sicca symptoms; therefore, many are under-diagnosed and cannot access appropriate medical management. Therefore, we propose a newly developed guidance for the diagnosis, treatment, and management of pediatric SS, including epidemiology, clinical features, and diagnostic examination methodology.

Agr virulence is critical for epidermal colonization and associates with atopic dermatitis development.

Atopic dermatitis (AD) is commonly associated with colonization by in the affected skin. To understand the role of in the development of AD, we performed whole-genome sequencing of strains isolated from the cheek skin of 268 Japanese infants 1 and 6 months after birth. About 45% of infants were colonized with at 1 month regardless of AD outcome.

Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.

Haploinsufficiency of A20 (HA20) causes inflammatory disease resembling Behçet's disease; many cases have been reported, including some that are complicated with autoimmune diseases. This study aims to clarify the immunophenotype of patients with HA20 by analyzing lymphocyte subsets using multicolor flow cytometry. The patients with HA20 previously diagnosed in a nationwide survey were compared by their cell subpopulations.