Granulomatous rosacea: a clue to the diagnosis of STAT1 gain of function in a child with immunodeficiency

Recurrent granulomatous rosacea in a paediatric patient prompted an investigation that unveiled a rare gain-of-function mutation in the STAT1 gene. This case highlights the clinical diversity associated with STAT1 mutations and underscores the importance of considering genetic factors in unexplained...

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Bibliographic Details
Published inClinical and experimental dermatology Vol. 49; no. 5; pp. 516 - 518
Main Authors Buján Bonino, Cecilia, Moreiras Arias, Noelia, López-Pardo Rico, María, López Franco, Montserrat, Loidi, Lourdes, Suárez Peñaranda, José Manuel, Vázquez Osorio, Igor
Format Journal Article
LanguageEnglish
Published UK Oxford University Press 23.04.2024
Subjects
Child
Female
Gain of Function Mutation
Humans
Male
Rosacea - diagnosis
Rosacea - pathology
STAT1 Transcription Factor - genetics
STAT1 Transcription Factor - metabolism
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Summary:Recurrent granulomatous rosacea in a paediatric patient prompted an investigation that unveiled a rare gain-of-function mutation in the STAT1 gene. This case highlights the clinical diversity associated with STAT1 mutations and underscores the importance of considering genetic factors in unexplained immunodeficiency and skin conditions, offering valuable insights for diagnosis and treatment.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Correspondence-3
content type line 23
ObjectType-Report-1
ISSN:0307-6938
1365-2230
1365-2230
DOI:10.1093/ced/llad442