Granulomatous rosacea: a clue to the diagnosis of STAT1 gain-of-function in an immunodeficient child

Abstract

Recurrent granulomatous rosacea in a pediatric patient prompted an investigation that unveiled a rare gain-of-function (GOF) 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