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Article

PSTPIP1-associated myeloid-related proteinaemia inflammatory (PAMI) syndrome; a case presenting as a perinatal event with early central nervous system involvement?

Pediatric rheumatology online journal - 15 Jul 2022

Whiteside Bethany Gillies, Titheradge Hannah, Al-Abadi Eslam

Abstract excerpt

BACKGROUND: We report a three-year-old girl with a potentially unique phenotype of perinatal onset and neurovascular features who was found to have PAMI syndrome. We also compare her case to those previously reported and review the differences between the PSTPIP1-associated inflammatory diseases (PAID) phenotypes and genotypes. CASE PRESENTATION: The patient was found to have a heterozygous pathogenic variant in...

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Identifiers

PMID: 35840971
DOI: 10.1186/s12969-022-00707-5
PMCID: PMC9288020

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