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

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(The American Journal of Human Genetics 107, 539–543; September 3, 2020) In the version of this paper originally published, Christopher E.M. Griffith was accidently omitted from the list of members of The APRICOT and PLUM study team. This has been corrected online. The authors apologize for this error. Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin DiseaseVergnano et al.The American Journal of Human GeneticsAugust 5, 2020In BriefThe identification of disease alleles underlying human autoinflammatory diseases can provide important insights into the mechanisms that maintain neutrophil homeostasis. Here, we focused our attention on generalized pustular psoriasis (GPP), a potentially life-threatening disorder presenting with cutaneous and systemic neutrophilia. Following the whole-exome sequencing of 19 unrelated affected individuals, we identified a subject harboring a homozygous splice-site mutation (c.2031−2A>C) in MPO. This encodes myeloperoxidase, an essential component of neutrophil azurophil granules. Full-Text PDF Open Access

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