Clinical and Genetic Spectrum of Nine Cases of NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) and Identification of One Novel NLRP3 Mutation by Genetic Variation Analyses.

Purpose: NLRP3-associated autoinflammatory disease (NLRP3-AID) is characterized by gain-of-function variants in the NLRP3 gene. Since there are little literature focusing on pediatric NLRP3-AID in China, we aimed to elucidate the phenotypic and genotypic profiles of Chinese patients with NLRP3-AID.

Methods: Patients with NLRP3-AID at three rheumatology centers in China were genotyped through whole exome sequencing or gene panel sequencing.

Inositol-Triphosphate 3-Kinase C and DNA Methylation Involvement in NLRP3 Inflammasome Activation in Kawasaki Disease.

Objective: To evaluate ITPKC and NLRP3 expression in children with Kawasaki disease (KD) and investigate the relationship between serum pro-inflammatory cytokines triggered by NLRP3 and inflammatory indices. Simultaneously, the methylation level in the ITPKC promoter was evaluated in children with KD.

Methods: Children who satisfied the American Heart Association diagnostic criteria for KD were enrolled in the study from August 2018 to January 2019.

Kikuchi-Fujimoto Disease With Encephalopathy in Children: Case Reports and Literature Review.

Kikuchi-Fujimoto disease (KFD) is a benign and self-limiting disease characterized by regional lymphadenitis and low-grade fever. Encephalopathy may present in children with KFD. We present three cases of KFD with encephalopathy in children and a literature review.

Clinical and laboratory features, treatment, and outcomes of macrophage activation syndrome in 80 children: a multi-center study in China.

Background: Macrophage activation syndrome (MAS) is a major cause of morbidity and mortality in pediatric rheumatology. We aimed to further understand the clinical features, treatment, and outcome of MAS in China.

Methods: A multi-center cohort study was performed in seven hospitals in China from 2012 to 2018.

Clinical Manifestations of Kawasaki Disease Shock Syndrome.

A case-control study was performed to ascertain clinical features of children who had been diagnosed as Kawasaki disease shock syndrome (KDSS), a severe condition related to Kawasaki disease (KD). Hospitalized patients were selected in Nanjing Children's Hospital. Demographic characteristics, clinical presentation, laboratory data, cardiovascular findings, and therapies were analyzed.

IRF5 is elevated in childhood-onset SLE and regulated by histone acetyltransferase and histone deacetylase inhibitors.

Interferon regulatory factor 5 (IRF5) plays a critical role in the induction of type I interferon, proinflammatory cytokines and chemokines, and participates in the pathogenesis of autoimmune diseases such as systemic lupus erythematosus (SLE). However, the relationship between IRF5 and childhood-onset SLE remains elusive. In the present study, we demonstrated that levels of mRNA expression of IRF5, IFN-α, and Sp1 were significantly increased in childhood-onset SLE, as seen on quantitative real-time PCR, and the expression of Sp1 and IFN-α was positively correlated with IRF5.

Involvement of P2X7 receptor signaling on regulating the differentiation of Th17 cells and type II collagen-induced arthritis in mice.

Interleukin (IL)-17 producing T helper (Th17) cells are major effector cells in the pathogenesis of rheumatoid arthritis (RA). The P2X7 receptor (P2X7R) has emerged as a potential site in the regulation of inflammation in RA but little is known of its functional role on the differentiation of Th17 cells. This study investigates the in vitro and in vivo effects of P2X7R on Th17 cell differentiation during type II collagen (CII) induced experimental arthritis model.

STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C polymorphisms influence the risk of developing juvenile idiopathic arthritis in Han Chinese patients.

Juvenile idiopathic arthritis (JIA) is a common autoimmune disease characterized by environmental influences along with several predisposing genes in the pathogenesis. The protein tyrosine phosphatase nonreceptor 22 (PTPN22) and signal transducer and activator of transcription factor 4 (STAT4) have been recognized as susceptibility genes for numerous autoimmune diseases. Associations of STAT4 rs7574865 G/T and PTPN22 (rs2488457 G/C and rs2476601 C/T) polymorphisms with JIA have repeatedly been replicated in several Caucasian populations.

Pancytopenia as an early indicator for Stevens-Johnson syndrome complicated with hemophagocytic lymphohistiocytosis: a case report.

Background: Stevens-Johnson syndrome (SJS) is a severe skin and mucosal bullous disease. When complicated with Hemophagocytic lymphohistiocytosis (HLH), the condition is especially life-threatening.

Case Presentation: Here we report the case of a 4-year-old boy suffering from SJS with extensive erythema multiforme and bulla.

[Expression of CD 86 on monocyte and B cell surface, the level of T(H)-derived cytokine and their correlation in children with asthma].

Objective: To explore the role of T lymphocytes activation co-stimulation pathway and T lymphocyte subset activation in asthma pathogenesis.

Methods: The blood samples were taken from 35 asthma children (including 22 male and 13 female, age 11 months-9 years) and 31 normal children (including 19 male and 12 female, age 8 months-12 years). Direct immunofluorescence flow cytometry was used to detect the CD86 mean fluorescence intensity (MFI) on CD(14)(+) cell, CD(19)(+) cell percentage and CD19 and CD86 double positive cell percentage in PBMC activated by LPS.

[Inhibition of respiratory syncytial virus replication in cultured cells by RNA-cleaving DNAzyme].

Objective: DNAzyme/Deoxyribozyme is another novel molecular biological tool following the ribozyme. DNAzyme consists of a 15-nucleotide (nt) internal loop as its catalytic domain and two flanking substrate-recognition domains of 7 to 8 nt each which is complementary to substrate. The RNA substrate is cleaved at a particular phosphodiester located between an unpaired purine and a paired pyrimidine residue.