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

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

Abstract 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 dise...

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Bibliographic Details
Main Authors: Bethany Gillies Whiteside, Hannah Titheradge, Eslam Al-Abadi
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Pediatric Rheumatology Online Journal
Subjects:
PAMI
PAID
PSTPIP1
PAPA
Autoinflammatory
Perinatal
Online Access:https://doi.org/10.1186/s12969-022-00707-5

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