Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1360-0443.2005.01058.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
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 PDFImplementation study of the CARRA Uveitis Consensus Treatment Plans: feasibility for clinical practice and applicability for research.
Pediatr Rheumatol Online J
October 2024
Division of Immunology, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Fegan 6 Boston, Boston, MA, 02115, USA.
Article Synopsis
- Chronic anterior uveitis (CAU) can cause serious eye problems, so doctors created treatment plans to help kids with it.
- The study looked at how these treatment plans worked for kids with a type of arthritis-related eye condition, tracking their medicine and eye health over time.
- Results showed that most kids had good control of their uveitis after six months, and both treatment plans were successfully used in real-life doctor visits.
Comment on: Phallus preservation and reconstruction: 5-Year outcomes of national penile cancer centralisation in the Republic of Ireland.
Surgeon
October 2024
Department of Genitourinary Oncology, H. Lee Moffitt Cancer Center, Tampa, FL, USA.
Robotic Vagus-Sparing Total Gastrectomy for CDH1 Gene Mutation Treatment.
J Vis Exp
December 2023
Saint George and Sutherland Clinical School, Faculty of Medicine, The University of New South Wales.
Hereditary diffuse gastric cancer (HDGC) caused by the CDH1 gene mutation is an inherited cancer syndrome that increases the risk of diffuse gastric cancer and is nearly impossible to detect by screening gastroscopy. The recommended preventative treatment is a total gastrectomy. Robotic surgery facilitates the use of minimally invasive surgical (MIS) techniques for anastomoses and posterior vagus preservation to potentially reduce adverse functional outcomes.
View Article and Find Full Text PDFA partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation.
J Exp Med
January 2024
Department of Immunology and Microbiology, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Lymphocyte-specific protein tyrosine kinase (LCK) is essential for T cell antigen receptor (TCR)-mediated signal transduction. Here, we report two siblings homozygous for a novel LCK variant (c.1318C>T; P440S) characterized by T cell lymphopenia with skewed memory phenotype, infant-onset recurrent infections, failure to thrive, and protracted diarrhea.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!