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Gut 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 PDFNephrotic Syndrome and Recurrent Infection.
Iran J Allergy Asthma Immunol
October 2024
Clinical Immunology Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
Nephrotic syndrome is characterized by the leakage of protein from the blood into the urine along with the triad of proteinuria, albuminuria, and peripheral edema. Loss of protein leads to the loss of immunoglobulin and complements. X-linked agammaglobulinemia (XLA), or Bruton disease, is a primary immunodeficiency disease caused by a defect in the development of B cells in the bone marrow and a low serum level of immunoglobulins.
View Article and Find Full Text PDFSingle Mutation Different Clinical Findings: IGLL1 Defect.
Iran J Allergy Asthma Immunol
April 2024
Department of Medical Genetic, University of Health Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Agammaglobulinemia is a rare inherited immunodeficiency disorder characterized by low or absent B cells with absent immunoglobulins. While X-linked agammaglobulinemia (XLA) is the most common type other genetic forms of agammaglobulinemia have been identified. During early childhood, passively transferred maternal Immunoglobulin G protects against various infections.
View Article and Find Full Text PDFDigenic Inheritance of Hereditary Spherocytosis Type III and X-linked Agammaglobulinemia: Coexistence of Two Distinct Recessive Disorders in a Male Child.
Cureus
September 2024
Department of Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Hereditary spherocytosis (HS) is a common inherited hemolytic disease caused by mutations in genes encoding proteins crucial to the red blood cell (RBC) membrane, leading to a change in RBC shape from biconcave to spherical. There are five distinct types of hereditary spherocytosis, with types III and V being autosomal recessive and types I, II, and IV autosomal dominant. X-linked agammaglobulinemia (XLA) is a common inborn error of immunity that impairs B cell maturation and differentiation.
View Article and Find Full Text PDFAtypical Manifestation of X-linked Agammaglobulinemia - the Importance of Genetic Testing.
Acta Medica (Hradec Kralove)
October 2024
Centre for Primary Immunodeficiencies, Department of Paediatrics, Jessenius Faculty of Medicine, Comenius University in Bratislava, University Hospital in Martin, Slovakia.
X-linked agammaglobulinemia (XLA) was one of the first inborn errors of immunity to be described. It is caused by pathogenic variants in the gene for Bruton tyrosine kinase (BTK), which has important functions in B cell development and maturation. Recurrent bacterial infections in the first two years of life and hypogammaglobulinemia with absent B cells in male patients are the most common symptoms.
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