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Article

PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.

Pediatric blood & cancer - 1 Jan 2019

Hashmi Saman K, Bergstrom Katie, Bertuch Alison A, Despotovic Jenny M, Muscal Eyal, Xia Fan, Bi Weimin, Marcogliese Andrea, Diaz Rosa

Abstract excerpt

Neutropenia in pediatric patients can be due to a variety of disorders. We describe two patients who underwent extensive evaluation over many years for arthralgias and moderate neutropenia of unclear etiology. Genetic testing identified a pathogenic variant in PSTPIP1 (proline-serine-threonine phosphatase-interacting protein 1) in both patients. Markedly elevated inflammatory markers and zinc levels confirmed the...

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Identifiers

PMID: 30198636
DOI: 10.1002/pbc.27439

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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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