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Chronic 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 PDFRecurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1 Gain-of-Function Mutation.
Mycopathologia
December 2024
Dermatology Hospital, Southern Medical University, Guangzhou, China.
We presented a case of chronic mucocutaneous candidiasis (CMC) due to STAT1 GOF mutation with recurrent enteritis and intestinal obstruction. A 33-year-old woman complained of recurrent oral erosion and finger (toe) nails damage for over 30 years. Candida albicans were cultured from the oral mucosa and nails.
View Article and Find Full Text PDFChronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report.
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 PDFClinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.
Immunol Res
December 2024
Paediatric Immunology and Rheumatology Unit, Aster CMI Hospital, Bengaluru, India.
DOCK8 deficiency is the most common cause of autosomal recessive hyper-IgE syndrome (AR-HIES). The clinical spectrum is wide resulting in combined immunodeficiency, atopy, autoimmunity, and malignancies. To study the clinical and molecular profile of 20 patients with DOCK8 deficiency.
View Article and Find Full Text PDFPrevalence of Fungal Infections in Pemphigus Patients: A Systematic Review and Meta-Analysis.
Mycoses
December 2024
School of Medicine, Abadan University of Medical Sciences, Abadan, Iran.
Background: Pemphigus is a life-threatening autoimmune disease characterised by blistering skin and/or mucous membranes. The present study aimed to determine the prevalence of fungal infections in the pemphigus population.
Methods: Different databases were searched to gain access to all studies on the prevalence of fungal infections published up to the 31st of May 2024.
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