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   Articles with "chronic mucocutaneous" as a keyword



A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1

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recommendations! Published in 2025 at "Journal of Clinical Immunology"

DOI: 10.1007/s10875-025-01937-4

Abstract: Germline heterozygous gain-of-function (GOF) mutations in STAT1 impair IL-17-mediated immunity, resulting in carriers’ susceptibility to chronic mucocutaneous candidiasis (CMC). JAK inhibitors have shown therapeutic effectiveness in patients with STAT1-GOF mutations. The mutation was detected using… read more here.

Keywords: mucocutaneous candidiasis; gain function; cmc; mutation ... See more keywords

Chronic Mucocutaneous Candidiasis Due to Gain-of-Function Mutation in STAT1

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recommendations! Published in 2018 at "Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology"

DOI: 10.1016/j.oooo.2018.05.023

Abstract: Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial Candida infection of skin, nails and mucous membranes. Gain-of-function mutations in the STAT1 gene (STAT1-GOF)… read more here.

Keywords: gain; chronic mucocutaneous; mucocutaneous candidiasis; gain function ... See more keywords

IL‐17 serum level in patients with chronic mucocutaneous candidiasis disease

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recommendations! Published in 2022 at "Pediatric Allergy and Immunology"

DOI: 10.1111/pai.13636

Abstract: Chronic mucocutaneous candidiasis (CMC) is defined by recurrent or persistent superficial infections involving nails, skin, and/or oral and genital mucosae. IL‐17 promotes the recruitment, chemotaxis, and expansion of neutrophils and acts directly on keratinocytes and… read more here.

Keywords: mucocutaneous candidiasis; patients chronic; level patients; chronic mucocutaneous ... See more keywords

Progress in molecular diagnosis and treatment of chronic mucocutaneous candidiasis

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recommendations! Published in 2024 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2024.1343138

Abstract: Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections with Candida of the skin, nails, and mucous membrane. It is a rare and severe disease resulting from autoimmune defects or immune dysregulations. Nonetheless,… read more here.

Keywords: mucocutaneous candidiasis; treatment; chronic mucocutaneous; diagnosis treatment ... See more keywords

Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 mutation in a Saudi patient: a case report

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recommendations! Published in 2024 at "Dermatology Reports"

DOI: 10.4081/dr.2024.9939

Abstract: 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 Candida albicans. Signal… read more here.

Keywords: mucocutaneous candidiasis; transducer activator; mutation; signal transducer ... See more keywords