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The dilemma of X-linked agammaglobulinemia carriers.
J Allergy Clin Immunol Glob
February 2025
Department of Molecular Medicine, Sapienza University, Rome, Italy.
Background: Many patients with X-linked agammaglobulinemia (XLA) nowadays have reached adulthood, as well as their sisters, possibly carriers of a deleterious Bruton tyrosine kinase variant. Studies on motherhood outcomes in families with XLA are lacking.
Objective: We sought to investigate adherence to carrier status screening, interest in preconception and prenatal genetic counseling, and reproductive decisions in relatives with XLA.
Nutritional status in pediatric patients with predominant antibody deficiency.
Biomedica
December 2024
Servicio de Inmunología Clínica y Alergia Pediátrica, HOMI Fundación Hospital Pediátrico de La Misericordia, Bogotá, D. C., Colombia.
Introduction: Predominant antibody deficiency is the most frequent group of innate immunity errors, but information about patients’ nutritional status is scarce.
Objectives: To characterize the nutritional status of Colombian patients with predominant antibody deficiencies.
Material And Methods: Material and methods.
Understanding secondary hypogammaglobulinemia and its implications for cancer prognosis in children: A retrospective cohort study.
Biomedica
December 2024
Departamento de Medicina, Facultad de Salud, Universidad ICESI, Cali, Colombia; Departamento de Alergología Pediátrica, Fundación Valle del Lili, Cali, Colombia.
Introduction: Immunodeficiencies are disturbances in the immune system that can affect cell function, quantity, or both. They can be either primary, associated with genetic defects, or secondary, linked to external factors such as hemato-oncological conditions. Secondary immunodeficiencies can lead to the initiation, reactivation, or acceleration of latent, residual, or active infections, which are the leading cause of mortality.
View Article and Find Full Text PDFAn obscure gene editor was used to restore a missing liver enzyme in an infant with a devastating metabolic condition.
View Article and Find Full Text PDFA Case of X-Linked Agammaglobulinemia and COVID-19 in a Japanese Infant.
J Nippon Med Sch
January 2025
Department of Pediatrics, Nippon Medical School.
An infant was diagnosed as having X-linked agammaglobulinemia (XLA) at age 3 months and was receiving immunoglobulin replacement therapy. He developed SARS-CoV-2 infection at age 7 months and was treated with intravenous immunoglobulin, remdesivir, and dexamethasone. His respiratory symptoms improved quickly, and the infection resolved.
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