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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.
Lymphoproliferation and hyper-IgM as the first manifestation of activated phosphoinositide 3-kinase δ syndrome: A case report.
Biomedica
December 2024
Universidad del Valle, Cali, ColombiaDepartamento de Microbiología, Facultad de Salud, Universidad del Valle, Cali, Colombia; Genetic Immunotherapy Section, Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Disorders, National Institutes of Health, Bethesda, MD, USA.
Activated phosphoinositide 3-kinase δ syndrome is an inborn error of immunity due to mutations within the genes responsible for encoding PI3Kδ subunits. This syndrome results in an excessive activation of the phosphoinositide 3-kinase signaling pathway. Gainof-function mutations in the gene PIK3R1 (encoding p85α, p55α, and p50α) lead to the development of the activated PI3K δ syndrome.
View Article and Find Full Text PDFGut microbial dysbiosis, IgA, and Enterococcus in common variable immunodeficiency with immune dysregulation.
Microbiome
January 2025
Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht and Utrecht University, Utrecht, the Netherlands.
Background: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and recurrent infections. Significant morbidity and mortality are caused by immune dysregulation complications (CVIDid), which affect around one-third of CVID patients and have a poorly understood etiology. Here, we investigate the hypothesis that gut microbial dysbiosis contributes to the inflammation underlying CVIDid.
View Article and Find Full Text PDFSelective IgA Deficiency and Aseptic Liver Abscess as Initial Indicators of Crohn's Disease in a Young Woman: A Case Study.
Am J Case Rep
December 2024
Department of Infectious Diseases, Hôpitaux Civils de Colmar, Colmar, France.
BACKGROUND Hepatic lesion in a young woman can lead to multiple diagnostic hypotheses, mainly infection and tumor. Crohn's disease (CD) is hardly evoked by clinicians but is reportedly associated with liver damage, especially diffuse granulomas and aseptic abscess. IgA deficiency has been associated with celiac disease or inflammatory bowel disease, including CD.
View Article and Find Full Text PDFExtra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.
Front Immunol
December 2024
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.
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