Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder characterized by immunodeficiency, thrombocytopenia, and eczema. The Management of eczema remains still a major clinical challenge. We present a rare case of eczema associated with WAS in an 8-year-old boy whose lesions significantly improve after a 4-week treatment of dupilumab, a interleukin(IL)-4α receptor monoclonal antibody. Although eczema relapsed after stopping dupilumab, and alleviated after dupilumab was resumed. Finally, the Eczema Area and Severity Index (EASI) score decreased to less than 7 after the patient receive dupilumab 300 mg every 4 weeks over 52 weeks. This case suggests that dupilumab is a promising therapy alternative for patient with eczema in WAS.
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http://dx.doi.org/10.1038/s41390-025-03941-1 | DOI Listing |
Ann Allergy Asthma Immunol
March 2025
Division of Immunology, Allergy and Retrovirology, Department of Pediatrics. Baylor College of Medicine. Houston and The Woodlands, TX. Electronic address:
Hematopoietic stem cell transplant has been the single curative treatment for inborn errors of immunity (IEI) and is recommended for the most severe IEI conditions, such as severe combined immunodeficiency (SCID). However, adverse outcomes primarily due to histocompatibility differences between the donor and the patient are still of concern. Progress in genetic and molecular mechanisms, as well as new technology to insert DNA sequences in cell genomes has allowed the development of strategies to treat genetic diseases by correcting the gene defect in patients' cells.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
March 2025
Department of Chemistry, Chicago Center for Theoretical Chemistry, Institute for Biophysical Dynamics, and James Franck Institute, The University of Chicago, Chicago, IL 60637.
Arp (actin-related protein) 2/3 complex nucleates actin filament branches on the sides of preexisting actin filaments during cell and organelle movements. We used computer simulations of mammalian Arp2/3 complex to address fundamental questions about the mechanism. Metadynamics and umbrella free energy sampling simulations of the pathway revealed that a clash between the D-loop of Arp2 and Arp3 produces an energy barrier of 20 ± 6 kcal/mol between the inactive splayed and active short-pitch conformations of Arp2/3 complex.
View Article and Find Full Text PDFJ Cell Biol
May 2025
Biology Department, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Apical constriction is a critical cell shape change that drives cell internalization and tissue bending. How precisely localized actomyosin regulators drive apical constriction remains poorly understood. Caenorhabditis elegans gastrulation provides a valuable model to address this question.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
February 2025
Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104.
Arp2/3 complex generates branched actin networks essential for numerous motile functions of the cell. It comprises seven subunits: actin-related proteins (Arps) 2 and 3 and five scaffolding subunits (ArpC1-5). The complex adopts two major conformations: inactive, with the Arps interacting end-to-end, and active, with the Arps aligned side-by-side like subunits in the actin filament.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
February 2025
Children's Hematology and Tumor Center, The Affiliated Hospital of Guangdong Medical University, Zhanjiang 524000, Guangdong Province, China.
Objective: To explore the clinical application value of metagenomic next-generation sequencing (mNGS) in pathogen detection of bloodstream infection secondary to hematologic diseases in children.
Methods: 42 children with bloodstream infections secondary to hematologic diseases admitted to the Children's Hematology and Tumor Center of the Affiliated Hospital of Guangdong Medical University from November 2021 to May 2023 were included in the study, and their clinical data, results of peripheral blood mNGS and traditional blood culture, pathogen distribution characteristics, and diagnostic efficacy of mNGS were retrospectively analyzed.
Results: Among the 42 children included, there were 2 cases (4.
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