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| http://dx.doi.org/10.1136/bmj.1.5135.1423 | DOI Listing |
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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 and genetic description of patients with chronic granulomatous disease in a pediatric hospital.
Biomedica
December 2024
Departamento de Alergología e Inmunología Clínica, Hospital Infantil de México Federico Gómez, Ciudad de México, México.
Introduction: Chronic granulomatous disease is a congenital immune disorder characterized by increased susceptibility to fungal and bacterial infections and dysregulated inflammation. It is caused by defects in the NADPH oxidase and EROS protein.
Objective: To characterize clinically and genetically four patients with chronic granulomatous disease at the Hospital Infantil de México Federico Gómez.
Distribution of extrapulmonary tuberculosis in CBNAAT samples received in a tertiary care hospital - A record-based study.
J Family Med Prim Care
December 2024
Department of Microbiology, College of Medicine and Sagore Dutta Hospital, Kolkata, West Bengal, India.
Background: Pulmonary tuberculosis (PTB) accounts for 85% of all reported tuberculosis cases globally. Extrapulmonary involvement can occur in isolation or along with a pulmonary focus as in the case of patients with disseminated tuberculosis (TB). EPTB can occur through hematogenous, lymphatic, or localized bacillary dissemination from a primary source, such as PTB and affects the brain, eye, mouth, tongue, lymph nodes of neck, spine, bones, muscles, skin, pleura, pericardium, gastrointestinal, peritoneum and the genitourinary system as primary and/or disseminated disease.
View Article and Find Full Text PDFIdiopathic infantile hypercalcemia with a variant triggered by vitamin D supplementation in fortified milk: A case report.
Clin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with variants.
View Article and Find Full Text PDFIntroduction: Intravesical Bacillus Calmette-Guérin immunotherapy is generally a safe treatment for non-muscle-invasive bladder cancer but sometimes causes complications.
Case Presentation: The patient was an 80-year-old man who had undergone Bacillus Calmette-Guérin immunotherapy for non-muscle-invasive bladder cancer. Two months later, he developed an irregular pelvic mass surrounding the prostate and rectum with no fever.
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