Chronic granulomatous disease (CGD) often presents with infectious illness, such as repeating bacterial and fungal infections, due to the inability to generate superoxide, which would destroy certain infectious pathogens, and is usually diagnosed in childhood. We describe a CGD case diagnosed in neonatal period, who initially presented with invasive aspergillosis. Neonatal invasive pulmonary aspergillosis is very rare and, to the best of our knowledge, this might be the youngest case in Japan.
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http://dx.doi.org/10.1016/j.jiac.2013.10.008 | DOI Listing |
Int J Mol Sci
January 2025
Department of Respiratory Medicine, Medical School, Democritus University of Thrace, University General Hospital Dragana, 68100 Alexandroupolis, Greece.
Sarcoidosis and lymphoma share immunopathological characteristics that suggest a complex, interconnected relationship. This article examines the multi-faceted mechanisms linking sarcoidosis to lymphoma, a phenomenon called sarcoidosis-lymphoma syndrome (SLS). SLS is hard to diagnose, requiring distinct criteria and imaging to differentiate overlapping features and histological differences.
View Article and Find Full Text PDFDiagnostics (Basel)
January 2025
Department of Internal Medicine and Gastroenterology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
: Granulomatosis with polyangiitis (GPA) represents a rare autoimmune disease with granulomatous inflammation, tissue necrosis, and systemic vasculitis of the small and medium blood vessels. Although the clinical elements vary, aortic involvement is exceptional and it represents a challenge that requires a rapid intervention with the potential of displaying a fulminant evolution. : We report a 64-year-old male with an 18-year history of GPA who presented atypical low back pain.
View Article and Find Full Text PDFMetabolites
December 2024
Division of Pulmonary, Critical Care, and Sleep, College of Medicine-Jacksonville, University of Florida, Jacksonville, FL 32209, USA.
Sarcoidosis is a granulomatous disease affecting multiple organ systems and poses a diagnostic challenge due to its diverse clinical manifestations and absence of specific diagnostic tests. Currently, blood biomarkers such as ACE, sIL-2R, CD163, CCL18, serum amyloid A, and CRP are employed to aid in the diagnosis and monitoring of sarcoidosis. Metabolomics holds promise for identifying highly sensitive and specific biomarkers.
View Article and Find Full Text PDFIran J Otorhinolaryngol
January 2025
Department of Otorhinolaryngology, Faculty of Medicine, Alexandria University, Egypt.
Introduction: Scleroma is a chronic, specific granulomatous disease that affects the head and neck mucosa. Its common sites are the nose and larynx; however, it might affect other areas. One of the rare sites to be affected is the middle ear and mastoid cavity, for which the term otoscleroma was coined.
View Article and Find Full Text PDFRegen Ther
March 2025
Pediatric Cell and Gene Therapy Research Center, Gene, Cell & Tissue Research Institute, Tehran University of Medical Science, Tehran, Iran.
Gene therapy (GT) as a groundbreaking approach holds promise for treating many diseases including immune deficiencies and blood disorders. GT can benefit patients suffering from these diseases, especially those without matched donors or who are at risk after hematopoietic stem cell transplantation (HSCT). Due to all the advances in the field of GT, its main challenge is still gene delivery.
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