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PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome: A rare cause of childhood neutropenia associated with systemic inflammation and hyperzincemia.
Hashmi, Saman K; Bergstrom, Katie; Bertuch, Alison A; Despotovic, Jenny M; Muscal, Eyal; Xia, Fan; Bi, Weimin; Marcogliese, Andrea; Diaz, Rosa.
Afiliação
  • Hashmi SK; Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.
  • Bergstrom K; Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.
  • Bertuch AA; Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.
  • Despotovic JM; Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.
  • Muscal E; Department of Pediatrics, Section of Immunology/Allergy/Rheumatology, Baylor College of Medicine, Houston, Texas.
  • Xia F; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bi W; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Marcogliese A; Department of Pathology, Baylor College of Medicine, Houston, Texas.
  • Diaz R; Department of Pediatrics, Section of Hematology Oncology, Baylor College of Medicine, Houston, Texas.
Pediatr Blood Cancer ; 66(1): e27439, 2019 01.
Article em En | MEDLINE | ID: mdl-30198636
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artralgia / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Inflamação / Erros Inatos do Metabolismo dos Metais / Mutação / Neutropenia Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Revista: Pediatr Blood Cancer Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artralgia / Proteínas do Citoesqueleto / Proteínas Adaptadoras de Transdução de Sinal / Inflamação / Erros Inatos do Metabolismo dos Metais / Mutação / Neutropenia Tipo de estudo: Etiology_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Revista: Pediatr Blood Cancer Ano de publicação: 2019 Tipo de documento: Article