Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil

Clinical and Genetic Findings of the First Report of PAPA Syndrome in Brazil

Background. PAPA syndrome (MIM #604416) is a rare monogenic autoinflammatory disease genetically transmitted in an autosomal dominant trait that results from missense mutations in the proline-serine-threonine phosphatase-interactive protein 1 (PSTPIP1) gene located on chromosome 15 and is characteri...

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Main Authors: Sérgio Júlio Fernandes, Maria Isabel Valdomir Nadaf, Nauro Hudson Monteiro, Izabel Nazira Nadaf, Cleiton Ribeiro Lélis, Bianca Yumi Takano, Bárbarah Gabriella de Camargo Monteiro, Nyvea Gabriella de Camargo Monteiro, Olga Akiko Takano, Leonardo Oliveira Mendonça
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Case Reports in Immunology
Online Access:http://dx.doi.org/10.1155/2021/6660937
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http://dx.doi.org/10.1155/2021/6660937

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