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Article

Immunological repertoire linked to PSTPIP1-associated myeloid-related inflammatory (PAMI) syndrome.

Pediatric rheumatology online journal - 16 Aug 2021

Mendonça Leonardo Oliveira, Terreri Maria Teresa, Osaku Fabiane Mitie, Barros Samar Freschi, Köhler Karen Francine, Prado Alex Isidoro, Barros Myrthes Toledo, Kalil Jorge, Castro Fabio Fernandes Morato

Abstract excerpt

BACKGROUND: Mutations along PSTPIP1 gene are associated to two specific conditions, PAPA syndrome and PAMI syndrome, both autoinflammatory disorders associated to disturbances in cytoskeleton formation. Immunological aspects of PAMI syndrome has not yet been reported neither the clinical impact on therapeutical decisions. METHODS: Clinical data of patients records were retrospectively accessed. Genomic DNA were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34399798
DOI: 10.1186/s12969-021-00617-y
PMCID: PMC8365952

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