Article

Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease

2020-02-23

Abstract excerpt

The identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil homeostasis. Here, we focused on generalized pustular psoriasis (GPP), a potentially life-threatening disorder presenting with cutaneous and systemic neutrophilia. Following the whole exome sequencing of 19 unrelated cases, we identified one affected individua...

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Literature Corpus work: d5a3df42-d012-5c13-b5c0-1f96d5cda316
DOI: 10.1101/2020.02.21.20026161

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