Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis.
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http://dx.doi.org/10.5546/aap.2017.e108 | DOI Listing |
Regen 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.
View Article and Find Full Text PDFJ Investig Med High Impact Case Rep
January 2025
Faculty of Medicine and Health Sciences, Palestine Polytechnic University, Hebron, Palestine.
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. The syndrome belongs to a group of metabolic disorders called Congenital Glycosylation Disorders (CGD).
View Article and Find Full Text PDFGenetics
January 2025
Dept. of Genetics, Stanford University, Stanford CA 94305-5120, USA.
The Candida Genome Database (CGD; www.candidagenome.org) is unique in being both a model organism database and a fungal pathogen database.
View Article and Find Full Text PDFSci Rep
January 2025
College of Physics and Electronic Information, Baicheng Normal University, Jilin, 137000, China.
An innovative GaN trench MOSFET featuring an ultra-low gate-drain charge (Q) is proposed, with its operational mechanisms thoroughly investigated using TCAD simulations. This novel MOSFET design introduces a triple-shield structure (BPSG-MOS) comprising three critical components: (1) a grounded split gate (SG), (2) a P+ shield region (PSR), and (3) a semi-wrapped BP layer that extends the P-shield beneath the gate and along the sidewalls of the trench gate. Both the SG and PSR effectively reduce gate-drain coupling, transforming most of the gate-drain capacitance (C) into a series combination of gate-source capacitance (C) and drain-source capacitance (C).
View Article and Find Full Text PDFInfect Dis Clin Microbiol
December 2024
Department of Infectious Diseases and Clinical Microbiology, Hacettepe University School of Medicine, Ankara, Türkiye.
Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded complex, sputum cultures .
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