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Outcomes of Hematopoietic Cell Transplantation in Children with Inborn Errors of Immunity: A Single-Center Series.
J Clin Immunol
December 2024
Department of Pediatrics, Division of Pediatric Hematology Oncology and Bone Marrow Transplantation, King Hussein Cancer Center, 202 Queen Rania Street, Amman, 11941, Jordan.
Inborn errors of immunity (IEI) are a heterogenous group of rare monogenic disorders that affect innate or adaptive immunity, resulting in susceptibility to life-threatening infections and autoimmunity. Allogeneic hematopoietic cell transplantation (HCT) is a valuable curative option for children with IEI. We conducted a retrospective single-center study on the outcome of HCT in children with IEI.
View Article and Find Full Text PDFGriscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
J Clin Immunol
November 2024
Paediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.
View Article and Find Full Text PDFImmunostimulation Signaling via Toll-like Receptor 2 Activation: A Molecular Mechanism of OTG1204 In Vitro and In Vivo.
Nutrients
October 2024
Department of Pharmaceutical Biochemistry, College of Pharmacy, Kyung Hee University, Seoul 02447, Republic of Korea.
Article Synopsis
- - The immune system relies on both innate and adaptive responses to fight pathogens, and individuals with weakened immune systems require effective methods to enhance their immune function.
- - This study investigates the effects of the probiotic OTG1204 on macrophages, crucial for immune defense, specifically examining its potential to stimulate the immune response in conditions of immunosuppression induced by cyclophosphamide (CTX).
- - Results showed that OTG1204 activated macrophages, increasing important signaling molecules and cytokines through specific pathways, and helped restore immune function in immunosuppressed mice by improving immune cell populations and overall health indicators.
GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.
BMC Infect Dis
November 2024
Sina Trauma and Surgery Research Center, Kerman University of Medical Sciences, Kerman, Iran.
Article Synopsis
- GATA2 deficiency is an autosomal dominant condition that increases the risk of severe infections and can lead to hemophagocytic lymphohistiocytosis (HLH), prompting a review of case studies linking the two.
- The systematic review analyzed 15 studies published between 2016 and 2024, including data from 23 patients aged 7 to 57, revealing various genetic mutations and infections contributing to HLH.
- Out of 8 patients who underwent hematopoietic stem cell transplantation (HSCT) for this condition, 6 survived while 2 did not, indicating some potential for successful treatment despite the severity of the disease.
Calcineurin inhibition enhances lifespan by defecation defects-mediated calorie restriction and nuclear hormone signaling.
Elife
November 2024
Department of Biological Sciences, Indian Institute of Science Education and Research, Mohali, India.
Calcineurin is a highly conserved calcium/calmodulin-dependent serine/threonine protein phosphatase with diverse functions. Inhibition of calcineurin is known to enhance the lifespan of through multiple signaling pathways. Aiming to study the role of calcineurin in regulating innate immunity, we discover that calcineurin is required for the rhythmic defecation motor program (DMP) in .
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