Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease
Sign Up to like & getrecommendations! Published in 2021 at "Pediatrics"
DOI: 10.1542/peds.2020-0784
Abstract: A toddler presents with chronic transfusion-dependent hemolytic anemia, hepatosplenomegaly, failure to thrive, and developmental delay with dramatic improvement after anakinra administration. PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare early-onset autoinflammatory disease associated with… read more here.
Keywords: hemolysis neurologic; pami syndrome; neurologic impairment; disease ... See more keywords
Strong inflammatory signatures in the neutrophils of PAMI syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2022.926087
Abstract: PSTPIP1 (proline-serine-threonine phosphatase-interactive protein 1)–associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disease caused by heterozygous gain-of-function mutation in PSTPIP1. As one of the PSTPIP1-associated inflammatory diseases (PAIDs), neutropenia is a distinct manifestation… read more here.
Keywords: syndrome; inflammatory signatures; strong inflammatory; pami syndrome ... See more keywords