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...

Popoln opis

Bibliografske podrobnosti
Main Authors: Bethany Gillies Whiteside, Hannah Titheradge, Eslam Al-Abadi
Format: Article
Jezik:English
Izdano: BMC 2022-07-01
Serija:Pediatric Rheumatology Online Journal
Teme:
PAMI
PAID
PSTPIP1
PAPA
Autoinflammatory
Perinatal
Online dostop:https://doi.org/10.1186/s12969-022-00707-5

Internet

https://doi.org/10.1186/s12969-022-00707-5

Podobne knjige/članki