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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: Bethany Gillies Whiteside, Hannah Titheradge, Eslam Al-Abadi
Μορφή: Άρθρο
Γλώσσα:English
Έκδοση: BMC 2022-07-01
Σειρά:Pediatric Rheumatology Online Journal
Θέματα:
PAMI
PAID
PSTPIP1
PAPA
Autoinflammatory
Perinatal
Διαθέσιμο Online:https://doi.org/10.1186/s12969-022-00707-5

Διαδίκτυο

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

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