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Refractory and Resistant Herpes Simplex Virus Mucocutaneous Infections in Immunocompromised Patients: Literature Review and Proposed Definitions for Use in Clinical Trials.
Clin Infect Dis
January 2025
Department of Cellular Therapy and Allogeneic Stem Cell Transplantation, Karolinska University Hospital Huddinge, Karolinska Comprehensive Cancer Center, Stockholm, Sweden.
Herpes simplex virus (HSV) infection is one of the most prevalent viral infections worldwide. In general, host immunity is sufficient to clear viral shedding and recurrences, although it is insufficient to prevent subsequent virologic reactivations. In immunocompromised patients, prolonged and difficult-to-treat HSV infections may develop.
View Article and Find Full Text PDFTwo siblings with monogenic lupus due to C1qC deficiency and case based review.
Clin Rheumatol
January 2025
Department of Pediatric Rheumatology, Ankara Etlik City Hospital, Ankara, Turkey.
Monogenic lupus is an extremely rare clinical condition in children. Defects in the complement pathway are the most common causes of monogenic lupus. C1qC deficiency is one of the defects in this pathway and is even rarer.
View Article and Find Full Text PDFChronic mucocutaneous candidiasis, mycobacterial infections and rosacea in a Mexican adult with STAT1 gain of function.
Biomedica
December 2024
Laboratorio de Inmunodeficiencias, Instituto Nacional de Pediatría, Ciudad de México, México.
STAT1 is a cytoplasmic transcription factor associated with cell growth regulation, differentiation, proliferation, metabolism, and apoptosis. IFN-mediated JAK/STAT signaling pathway is involved in eliminating intracellular pathogens and viruses. However, pathogenic variants in STAT1 can result in impaired or increased function.
View Article and Find Full Text PDFPeutz-Jeghers syndrome - Be in need of vigilance: A case report.
J Family Med Prim Care
December 2024
Department of Surgery, Datta Meghe Medical College, DMIHER University, Wardha, Maharashtra, India.
Peutz-Jeghar syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamarotmatous polyps in the digestive tract as well as cancers of the breast, colon, rectum, pancreas, stomach, testicles, ovaries, lung and cervix. With typical presentation, majority cases of PJS can be diagnosed in childhood. PJS is inherited by mutation in the STK II gene, also known as LKB1 gene.
View Article and Find Full Text PDFGlanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
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