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| http://dx.doi.org/10.1016/j.gendis.2023.101134 | DOI Listing |
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Recurrent meningococcal infections as a sign of inborn error immunity.
Epidemiol Mikrobiol Imunol
December 2024
Invasive meningococcal diseases (IMD) caused by Neisseria meningitidis are generally rare. They affect mostly selected age categories and risk groups of patients (in terms of age, comorbidities, or applied therapy), and the immune system and its defects may play an important modifying role. Meningococcal infections could be the first and only clinical sign of unrecognised immunodeficiency.
View Article and Find Full Text PDFImmunodeficiency: Complement disorders.
Allergy Asthma Proc
September 2024
From the Allergy and Immunology Service, Walter Reed National Military Medical Center, Bethesda, Maryland; and.
Article Synopsis
- * Deficiencies or abnormalities in complement proteins can lead to health issues like increased infection risk, autoimmune diseases, and thrombosis, depending on which protein is affected.
- * Diagnosis is done through functional assays to assess overall complement activity and specific factors, while management includes vaccinations, antibiotics, and monitoring for autoimmune conditions.
Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.
Genes Dis
November 2024
Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid 28046, Spain.
The role of gamma globulin, complement component 1q, factor B, properdin, body temperature, C-reactive protein and serum amyloid alpha to the activity and the function of the human complement system and its pathways.
J Immunol Methods
August 2024
Laboratory of Immunochemistry, Department of Life Technologies, Faculty of Technology, University of Turku, 20140, Finland. Electronic address:
The complement system plays a crucial role in orchestrating the activation and regulation of inflammation within the human immune system. Three distinct activation pathways-classical, lectin, and alternative-converge to form the common lytic pathway, culminating in the formation of the membrane-attacking complex that disrupts the structure of pathogens. Dysregulated complement system activity can lead to tissue damage, autoimmune diseases, or immune deficiencies.
View Article and Find Full Text PDFSevere Meningococcal Meningitis Revealing a Novel Form of Properdin Deficiency in a Previously Healthy 13-Year-old Child.
Pediatr Infect Dis J
August 2024
From the Department of General Pediatrics and Pediatric Infectious Diseases.
A 13-year-old boy was admitted with severe meningococcal meningitis. Immunologic workup revealed a properdin deficiency, and genetic sequencing of CFP identified a novel, private and predicted pathogenic variant in exon 8. The patient received broad immunizations and penicillin prophylaxis.
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