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Case report: A novel germline loss-of-function mutation in the STAT1 transactivation domain in two Chinese siblings, with the elder sibling presenting with multifocal Calmette-Guerin osteomyelitis.
Front Immunol
January 2025
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong, Hong Kong SAR, China.
Signal transducer and activator of transcription 1 (STAT1) gene mutations have broad clinical phenotypes, classified by the inheritance pattern and functional state. Individuals with autosomal dominant STAT1 deficiency are more susceptible to intracellular bacteria, the hallmark of which is Mendelian susceptibility to mycobacterial diseases (MSMDs) that are associated with increased risks of invasive disease by weakly virulent mycobacteria. We report a novel heterozygous missense mutation in exon 23 of the STAT1 gene (NM_007315.
View Article and Find Full Text PDFClinical Utility of Induced Sputum and Bronchoalveolar Lavage Cultures in Diagnosing Nontuberculous Mycobacterial Pulmonary Disease.
Pathogens
December 2024
Respiratory Infectious Diseases Unit, National Institute for Infectious Diseases "Lazzaro Spallanzani" IRCCS, 00149 Rome, Italy.
Diagnosing non-tuberculous mycobacterial pulmonary disease (NTM-PD) in patients unable to produce sputum spontaneously requires invasive procedures to obtain valid respiratory specimens. In this retrospective study, we evaluated the results of microbiological tests performed on respiratory samples of 132 patients affected by NTM-PD. In the diagnostic workout, 98 patients performed both induced sputum (IS) and bronchoalveolar lavage (BAL) and were enrolled in our study.
View Article and Find Full Text PDFCharacterization of acidic lysine acylations in mycobacteria.
Front Microbiol
December 2024
School of Chinese Materia Medica, Nanjing University of Chinese Medicine, Nanjing, Jiangsu, China.
Article Synopsis
- Protein acetylation is a widely studied post-translational modification, and recent research has identified three new forms: lysine malonylation, succinylation, and glutarylation, which mainly affect energy metabolism in diseases caused by Mycobacterium pathogens.
- Methods involved using high-affinity antibody enrichment and LC-MS/MS analysis to characterize these new lysine modifications and assess their functional impacts in certain proteins.
- Results showed significant global substrate characterization for these acylations, revealing connections to ribosomal function and various metabolic pathways, highlighting their importance in cellular processes.
Discovery of subsp. Lytic Phages with Extensive Host Range Across Rapid- and Slow-Growing Pathogenic Mycobacterial Species.
Antibiotics (Basel)
October 2024
Department of Microbiology, College of Science, Oregon State University, Corvallis, OR 97331, USA.
Background/objectives: Developing interventions for Johne's disease, which focuses on controlling subsp. (MAP) in contaminated environments by treating infected cows and preventing transmission from diseased animals, is a critical priority. Bacteriophage (phage) therapy, an emerging biological intervention, offers a promising alternative for the treatment and management of MAP infections.
View Article and Find Full Text PDFRapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.
Allergol Select
October 2024
Center for Child and Adolescent Health, Helios Hospital Krefeld, Academic Hospital of RWTH Aachen, Krefeld.
Article Synopsis
- Primary atopic disorders (PAD) are rare genetic conditions caused by specific gene variants that affect skin and immune function, making diagnosis challenging among common allergic disease cases.
- Identifying PAD requires recognizing clinical red flags like family history and unusual infections, as conventional lab tests are inadequate for definitive diagnosis.
- Whole-genome sequencing (WGS) enhances diagnostic efficiency and accuracy, but requires careful interpretation and collaboration among specialists to effectively manage PAD cases.
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