Effectiveness of sirolimus for early on-set autoimmune cytopenias of autoimmune lymphoproliferative immunodeficiencies.

Background: Pediatric patients with autoimmune lymphoproliferative immunodeficiencies (ALPIDs) who exhibit autoimmune cytopenias are frequently diagnosed with immune thrombocytopenia (ITP), autoimmune hemolytic anemia (AIHA), or Evans syndrome (ES). These conditions generally necessitate long-term immunosuppressive therapy using medications that are often ineffective and highly toxic before the diagnosis of ALPIDs. A less harmful treatment strategy is needed.

A Nanocarrier Enhances the Anti-Liver Cancer Efficacy of Mitoxantrone: An Acidic Panax notoginseng Polysaccharide III.

Introduction: The incidence and mortality rates of liver cancer are high; therefore, developing new drug delivery systems with good biocompatibility and targeting has become a research hotspot.

Methods: Mitoxantrone hydrochloride (MH) loaded in acidic Panax notoginseng polysaccharide III nanoparticles (MANPs) was prepared using electrostatic adsorption. This was achieved by loading MH in acidic Panax notoginseng polysaccharide III (APPN III), a natural compound that exhibits anti-tumor activity.

De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.

Severe congenital neutropenia (SCN) comprises a diverse range of rare hematological disorders characterized by recurrent, often life-threatening infections that manifest within the first months of life. Mutations in the ELANE gene are the most prevalent cause of SCN. While over 230 mutations in ELANE have been documented, including substitutions, frameshifts, nonsense mutations, and splice site alterations, the occurrence of deep intronic mutations has not been previously reported.

Nanoemulsion based lipid nanoparticles for effective demethylcantharidin delivery to cure liver cancer.

Demethylcantharidin (DEM) is a widely used antitumor drug; however, its poor tumor targeting and serious organotoxicity limit its application. The aim of this study was to develop a new drug delivery system for efficient delivery of DEM. Nanoemulsion based lipid nanoparticles containing demethylcantharidin (DNLNs) were prepared by loading nanoemulsions into lipid nanoparticles.

Inborn errors of immunity in mainland China: the past, present and future.

Inborn errors of immunity (IEI), also known as primary immunodeficiency diseases, comprise a group of rare genetic disorders that affect the development or/and function of the immune system. These disorders predispose individuals to recurrent infections, autoimmunity, cancer and immune dysregulations. The field of IEI diagnosis and treatment in mainland China has made significant strides in recent years due to advances in genome sequencing, genetics, immunology and treatment strategies.

A Novel Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.

Signal transducer and activator of transcription 3 () gain-of-function (GOF) mutations cause early-onset immune dysregulation syndrome, characterized by multi-organ autoimmunity and lymphoproliferation. Of them, interstitial lung disease (ILD) usually develops after the involvement of other organs, and the onset time is childhood and beyond rather than infancy. Here, we reported a patient who presented with fatal infancy-onset ILD, finally succumbing to death.

Clinical heterogeneity of NLRP12-associated autoinflammatory diseases.

Nod-like receptor family pyrin domain-containing protein 12 (NLRP12) is one of the critical pattern recognition receptors which participates in the regulation of multiple inflammatory responses. Mutations in cause exceptionally rare NLRP12-associated autoinflammatory disease (NLRP12-AID). So far, very few patients with NLRP12-AID have been identified worldwide; therefore, data on the clinical phenotype and genetic profile are limited.

Norcantharidin Nanostructured Lipid Carrier (NCTD-NLC) Suppresses the Viability of Human Hepatocellular Carcinoma HepG2 Cells and Accelerates the Apoptosis.

Malignant tumors have become the main cause of harm to human life and health. Development for new antitumor drugs and the exploration to drug carriers are becoming the concerned focus. In this study, we exploited our experiments to explore the effect of NCTD-NLC on liver cancer cells: the HepG2 cells cultured in vitro were given with NCTD-NLC administration; then, the estimation on cellular proliferation and apoptosis was accomplished through MTT and flow cytometry.

A heterozygous N-terminal truncation mutation of results in an impaired NF-κB dependent inflammatory response.

Germline heterozygous gain-of-function (GOF) mutation of , encoding IκBα, would affect the activation of NF-κB pathway and cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Here we reported a Chinese patient with a heterozygous N-terminal truncation mutation of /IκBα. She presented recurrent fever, infectious pneumonia and chronic diarrhea with EDA-ID.

A novel missense mutation in TNFAIP3 causes haploinsufficiency of A20.

A20, encoded by TNFAIP3, is an effective anti-inflammatory molecule that plays a crucial role in inhibiting NF-κB signal transmission and is linked to multiple inflammatory diseases. It has been reported that the haploinsufficiency of A20 (HA20) caused by multiple base mutations in TNFAIP3 shows early-onset spontaneous Behçet-like disease. However, the mechanisms by which A20 mutations involved in inflammatory disease are incompletely defined.

A Novel Mutation in the NBD Domain of Causes Mild Autoinflammation With Recurrent Urticaria.

Background: NOD-like receptor family CARD-containing 4 protein (NLRC4) is a cytosolic protein that forms an inflammasome in response to flagellin and type 3 secretion system (T3SS) proteins from invading Gram-negative bacteria. mutations have been recently identified in early-onset severe autoinflammatory disorders. In this study, we reported a novel mutation in in two Chinese patients, who manifested with recurrent urticaria and arthralgia.

[Serious adverse events associated with chemotherapy in children with acute lymphoblastic leukemia].

Objective: To study the occurrence of serious adverse events (SAEs) related to chemotherapy with CCCG-ALL-2015 regimen in children with acute lymphoblastic leukemia (ALL) and the risk factors for death after the SAEs.

Methods: A retrospective analysis was performed on the medical data of 734 children with ALL. They were treated with CCCG-ALL-2015 regimen from January 2015 to June 2019.

Clinical efficacy and safety of imatinib treatment in children and adolescents with chronic myeloid leukemia: A single-center experience in China.

Chronic myeloid leukemia (CML) is relatively rare in childhood and few studies have reported the clinical use of imatinib (IM) in pediatric CML. In this study, we evaluated the efficacy and tolerability of IM in children and adolescents with CML.We investigated 21 patients under 18 years of age with newly diagnosed CML and treated with IM in Children's Hospital of Chongqing Medical University between May 2014 and February 2018.