A5081998334- Immunodeficiency and Autoimmune Disorders
- Autoimmune and Inflammatory Disorders Research
- Blood disorders and treatments
- Immune Cell Function and Interaction
- Viral-associated cancers and disorders
- Cytomegalovirus and herpesvirus research
- Parvovirus B19 Infection Studies
- Cytokine Signaling Pathways and Interactions
- Chronic Lymphocytic Leukemia Research
- NF-κB Signaling Pathways
- Viral gastroenteritis research and epidemiology
- Mycobacterium research and diagnosis
- Eosinophilic Disorders and Syndromes
- Neurogenetic and Muscular Disorders Research
- Immune Response and Inflammation
- interferon and immune responses
- Pluripotent Stem Cells Research
- Histiocytic Disorders and Treatments
- Dermatology and Skin Diseases
- Hemoglobinopathies and Related Disorders
- RNA Research and Splicing
- Hematopoietic Stem Cell Transplantation
- Renal and related cancers
- CRISPR and Genetic Engineering
- melanin and skin pigmentation
Shanghai Institute for Science of Science
2025
Institut des Maladies Génétiques Imagine
2024-2025
Inserm
2024-2025
The University of Tokyo
2018-2024
Tokyo Medical and Dental University
2017-2024
Genetic mutations account for many devastating early onset immune deficiencies. In contrast, less severe and later diseases, including in patients with no prior family history, remain poorly understood. Whole exome sequencing two cohorts of such identified a novel heterozygous de novo IKBKB missense mutation (c.607G>A) separate kindreds whom probands presented dysregulation, combined T B cell deficiency, inflammation, epithelial defects. encodes IKK2, which activates NF-κB signaling....
Disease modeling with patient-derived induced pluripotent stem cells (iPSCs) is a powerful tool for elucidating the mechanisms underlying disease pathogenesis and developing safe effective treatments. Patient peripheral blood (PB) are used iPSC generation in many cases since they can be collected minimum invasiveness. To derive iPSCs that lack immunoreceptor gene rearrangements, hematopoietic progenitor (HSPCs) often targeted as reprogramming source. However, current protocols generally...
Deficiency of X-linked inhibitor apoptosis protein (XIAP) is an recessive inborn error immunity characterized by abnormal immune responses leading to inflammatory bowel disease and hemophagocytic lymphohistiocytosis. Although XIAP expression analysis flow cytometry (XIAP flow) commonly used diagnose deficiency, certain variants may not affect the expression, thereby complicating diagnostic process. crucial for nucleotide-binding oligomerization domain 2 (NOD2) signaling pathway. In this...
Discovered >70 years ago by Ogden Bruton, X-linked agammaglobulinemia (XLA), characterized recurrent bacterial infections, hypo/agammaglobulinemia, and peripheral blood B-cell deficiency, is among the best-established inborn errors of immunity (IEIs) one most well-documented single types IEIs, incidence which estimated to be between 1:100,000 1:200,000. However, although pathogenesis XLA well understood, several issues remain open for discussion. In this review, we describe unresolved...
Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV usually detected in B cells patients who have IM Burkitt's lymphoma and even with X-linked syndrome, which confirmed to vulnerability infection. In contrast, infects T (CD4+ T, CD8+ γδT) NK mono- oligoclonally CAEBV patients. It known that the phenotypes differ depending on are infected EBV....
Advances in next-generation sequencing technology have identified many genes responsible for inborn errors of immunity (IEI). However, there is still room improvement the efficiency genetic diagnosis. Recently, RNA and proteomics using peripheral blood mononuclear cells (PBMCs) gained attention, but only some studies integrated these analyses IEI. Moreover, previous proteomic PBMCs achieved limited coverage (approximately 3000 proteins). More comprehensive data are needed to gain valuable...
Summary Germline gain-of-function (GOF) variants in the signal transducer and activator of transcription 3 (STAT3) gene is an inborn error immunity presenting with autoimmunity lymphoproliferation. Symptoms can vary widely, no effective treatment has been established. This study investigated efficacy Janus kinase (JAK) inhibitors (JAKi) patients STAT3-GOF. Four were enrolled their clinical symptoms before after initiation JAKi described. A cell stimulation assay was performed using...
Abstract Hermansky–Pudlak syndrome type 2 (HPS2) is an extremely rare autosomal recessive inherited disease characterized by partial oculocutaneous albinism (OCA), bleeding diathesis due to a storage pool deficiency and immunodeficiency. The disorder caused disruption of the adapter protein 3 complex, which involved in impaired intracellular vesicle transport. Here, we report first case 1‐year‐old girl with HPS2 Asia. She had no specific symptoms other than OCA neutropenia. We analyzed her...
Abstract Human herpesvirus‐6 (HHV‐6) is a common pathogen affecting the human population. Primary HHV‐6 infection generally occurs during infancy and causes exanthema subitum. Moreover, may exhibit inherited chromosomally integrated (iciHHV‐6) in certain individuals. Although iciHHV‐6 known to be nonpathogenic, it cause reactivation patients with primary immunodeficiency disease (PID). XIAP deficiency rare PID characterized by recurrent hemophagocytic lymphohistiocytosis (HLH). It has been...
Severe combined immunodeficiency (SCID) is an inborn error of immunity that occurs in approximately 1 50,000 births, mainly due to impaired lymphocyte differentiation. Without curative treatment, such as hematopoietic cell transplantation (HCT) or gene therapy, severe infection the first year life could make this condition fatal. The results HCT are poor when patients have active infections, thus requiring early diagnosis before onset infection. In five cases SCID diagnosed Japan, oral...