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

被引：22

作者：

Hashmi, Saman K. ^{[1
]}

Bergstrom, Katie ^{[1
]}

Bertuch, Alison A. ^{[1
]}

Despotovic, Jenny M. ^{[1
]}

Muscal, Eyal ^{[2
]}

Xia, Fan ^{[3
]}

Bi, Weimin ^{[3
]}

Marcogliese, Andrea ^{[4
]}

Diaz, Rosa ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Pediat, Sect Hematol Oncol, 1102 Bates St,Ste 1070-01, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Sect Immunol Allergy Rheumatol, Houston, TX 77030 USA

[3] Baylor Coll Med, Mol & Human Genet, Houston, TX 77030 USA

[4] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

来源：

PEDIATRIC BLOOD & CANCER | 2019年 / 66卷 / 01期

关键词：

cytopenias; elevated zinc; joint pains; PAMI syndrome; DISORDER;

D O I：

10.1002/pbc.27439

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页数：4

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