Background: Signal transducer and activator 1 (STAT-1) mutations are rare and have been implicated in combined immunodeficiency, enhanced tumorigenesis, and vascular defects.
Methods: A 60-year-old woman with a novel STAT-1 mutation and resulting immunodeficiency, squamous cell carcinoma, and vascular disease presented with profuse epistaxis secondary to rupture of an aberrant artery that she developed in part because of this mutation. After unsuccessful posterior packing, embolization was initiated but subsequently aborted because of a bovine origin carotid artery and a history of multiple carotid dissections.
Results: After repeat posterior packing, hemostasis was achieved. No additional episodes of epistaxis occurred in the subsequent 13 months.
Conclusion: Vascular anomalies can present challenges in epistaxis management. In patients with conditions known to cause vascular anomalies, it is critical to obtain vascular imaging before intervention.
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http://dx.doi.org/10.1002/hed.24165 | DOI Listing |
Dermatol Reports
November 2024
Department of Dermatology, College of Medicine, King Saud University and King Saud University Medical City, Riyadh, Saudi Arabia.
Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency condition caused by a genetic abnormality that increases the risk of recurrent and persistent skin, nail, and mucous membrane infections with Candida species, typically . Signal transducer and activator of transcription 1 (STAT1) gene mutation is a genetic trigger that causes CMC, which increases the risk of infections, multisystem disorders, and cancer susceptibility. We describe the first case of a Saudi female patient with clinical features of CMC with an underlying (STAT1) gene mutation.
View Article and Find Full Text PDFCureus
September 2024
Department of Periodontics, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
J Allergy Clin Immunol
April 2024
Centre for Translational Stem Cell Biology, University of Hong Kong, Hong Kong SAR, China; Division of Rheumatology and Clinical Immunology, Department of Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China. Electronic address:
Background: Inborn errors of immunity (IEI) often lack specific disease models and personalized management. Signal transducer and activator of transcription (STAT)-1 gain of function (GoF) is such example of an IEI with diverse clinical phenotype with unclear pathomechanisms and unpredictable response to therapy. Limitations in obtaining fresh samples for functional testing and research further highlights the need for patient-specific ex vivo platforms.
View Article and Find Full Text PDFEMBO Rep
December 2023
Instituto de Biología y Genética Molecular, Consejo Superior de Investigaciones Científicas (CSIC), Valladolid, Spain.
Interferons (IFN) are crucial antiviral and immunomodulatory cytokines that exert their function through the regulation of a myriad of genes, many of which are not yet characterized. Here, we reveal that lipin-2, a phosphatidic acid phosphatase whose mutations produce an autoinflammatory syndrome known as Majeed syndrome in humans, is regulated by IFN in a STAT-1-dependent manner. Lipin-2 inhibits viral replication both in vitro and in vivo.
View Article and Find Full Text PDFIntern Med
May 2024
Division of Respirology, Neurology and Rheumatology, Department of Medicine, Kurume University School of Medicine, Japan.
A 30-year-old man presented with oral candidiasis and a history of lung abscess. He experienced recurring oral and skin candidiasis in childhood but spent long periods without any infections. Therefore, immunodeficiency was suspected.
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