A5108005860- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- T-cell and B-cell Immunology
- Blood disorders and treatments
- Ubiquitin and proteasome pathways
- NF-κB Signaling Pathways
- interferon and immune responses
- Systemic Lupus Erythematosus Research
- RNA modifications and cancer
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
- Autoimmune and Inflammatory Disorders Research
- PI3K/AKT/mTOR signaling in cancer
- Erythrocyte Function and Pathophysiology
- Streptococcal Infections and Treatments
- Inflammasome and immune disorders
- Tuberculosis Research and Epidemiology
- Helicobacter pylori-related gastroenterology studies
The First Affiliated Hospital of Guangxi University of Traditional Chinese Medicine
2025
Children's Hospital of Fudan University
2021-2024
Zhejiang University
2022
Interferon regulatory factor 4 (IRF4) is a transcription (TF) and key regulator of immune cell development function. We report recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) seven patients from six unrelated families. The exhibited profound susceptibility to opportunistic infections, notably Pneumocystis jirovecii , presented with agammaglobulinemia. Patients’ B cells showed impaired maturation, decreased immunoglobulin isotype...
Objective Observational studies suggest links between inflammatory factors, metabolites, and sepsis, yet their causality is uncertain. This study employs Mendelian Randomization (MR) to investigate the these factors aiming uncover precise relationship identify novel treatment approaches. Methods We used summary data from genome-wide association (GWAS) involving 91 1400 metabolites as exposure, STREPTO SEPSIS outcome. Inverse variance weighting (IVW) MR-Egger were evaluate causal effect...
Elimination of autoreactive developing B cells is an important mechanism to prevent autoantibody production. However, how cell receptor (BCR) signaling triggers apoptosis immature remains poorly understood. We show that BCR stimulation up-regulates the expression lysosomal-associated transmembrane protein 5 (LAPTM5), which in turn through two pathways. LAPTM5 causes internalization, resulting decreased phosphorylation SYK and ERK. In addition, targets E3 ubiquitin ligase WWP2 for lysosomal...
Hypomorphic RAG1 or RAG2 mutations cause primary immunodeficiencies and can lead to autoimmunity, but the underlying mechanisms are elusive. We report here a patient carrying c.116+2T>G homozygous splice site mutation in first intron of RAG1, which led aberrant splicing greatly reduced protein expression. B cell development was blocked at both pro-B pre-B transition immature differentiation step. The cells had receptor repertoire diversity decreased complementarity determining region 3...
Abstract Mutations in the human nuclear factor-κB2 gene (NFKB2) are associated with common variable immunodeficiency (CVID) or combined diseases (CID), characterized by B-cell lymphopenia, hypogammaglobulinemia, and T-cell dysfunction. This study investigated whether B cells NFKB2 mutations exhibit intrinsic impairments activation, class-switch recombination, differentiation. We analyzed five patients from four unrelated families CVID, each carrying a heterozygous mutation: P1...
Colorectal cancer (CRC) ranks among the top causes of mortality globally. Gut inflammation is one crucial risk factor that augments CRC development since patients suffering from inflammatory bowel disease have an increased incidence CRC. The role immunoglobulin (Ig)A in maintaining gut homeostasis and preventing has been well established. Our earlier work demonstrated marginal zone B1 cell-specific protein (MZB1) promotes IgA secretion its absence results pronounced dextran sulfate sodium...
Congenital neutropenia (CN) is a genetic disorder characterized by persistent or intermittent low peripheral neutrophil counts, thus increasing susceptibility to bacterial and fungal infections. Various forms of CN, caused distinct mutations, exhibit differential responses granulocyte colony-stimulating factor (G-CSF) therapy, with the underlying mechanisms not fully understood. This study presents an in-depth comparative analysis clinical immunological features in 5 CN patient groups...