RESUMO

Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who presented with confluent hyperkeratotic plaques that drained purulent material with subsequent scarring. A c.3641C > G (p. Pro1214Arg) variant that has been previously been reported was found in NLRP1 and was not present in either parent. The term NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) is proposed to encompass all reported cases, which have received different nomenclature so far.

Assuntos

Proteínas Adaptadoras de Transdução de Sinal , Doenças Hereditárias Autoinflamatórias , Feminino , Humanos , Criança , Proteínas Adaptadoras de Transdução de Sinal/metabolismo , Proteínas Reguladoras de Apoptose/metabolismo , Doenças Hereditárias Autoinflamatórias/diagnóstico , Doenças Hereditárias Autoinflamatórias/genética , Doenças Hereditárias Autoinflamatórias/complicações , Proteínas NLR

RESUMO

We report three familial cases of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome, including a pair of monozygotic twins and their mother. It suggests that periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome may have a certain monogenetic background.

Assuntos

Doenças Hereditárias Autoinflamatórias/genética , Linfadenite/genética , Faringite/genética , Estomatite Aftosa/genética , Adulto , Pré-Escolar , Feminino , Doenças Hereditárias Autoinflamatórias/complicações , Humanos , Lactente , Linfadenite/complicações , Pescoço , Faringite/complicações , Estomatite Aftosa/complicações