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Article

Hemolysis and Neurologic Impairment in PAMI Syndrome: Novel Characteristics of an Elusive Disease.

Pediatrics - 1 Mar 2021

Del Borrello Giovanni, Guardo Daniela, Micalizzi Concetta, Ceccherini Isabella, Miano Maurizio, Gattorno Marco, Dufour Carlo

Abstract excerpt

PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare early-onset autoinflammatory disease associated with various hematologic findings, including chronic neutropenia and pancytopenia. We report a unique case of PAMI syndrome in a toddler with transfusion-dependent hemolytic anemia, hepatosplenomegaly, failure to thrive, developmental delay, and multiple malformations. Because of...

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Identifiers

PMID: 33597285
DOI: 10.1542/peds.2020-0784

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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