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

Pediatr Blood Cancer. 2019 Jan;66(1):e27439. doi: 10.1002/pbc.27439. Epub 2018 Sep 10.

Abstract

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 rare diagnosis of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome, tailoring treatment. Neutropenia is common in patients with PAMI syndrome. Unique mutations seen in PAMI syndrome may account for the specific phenotypic features of this disorder.

Keywords: PAMI syndrome; cytopenias; elevated zinc; joint pains.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Arthralgia / etiology
  • Arthralgia / genetics
  • Arthralgia / pathology*
  • Child
  • Cytoskeletal Proteins / genetics*
  • Female
  • Humans
  • Inflammation / complications*
  • Metal Metabolism, Inborn Errors / complications*
  • Mutation*
  • Neutropenia / etiology
  • Neutropenia / genetics
  • Neutropenia / pathology*
  • Phenotype
  • Prognosis
  • Syndrome

Substances

  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • PSTPIP1 protein, human

Supplementary concepts

  • Hyperzincemia with Functional Zinc Depletion