Article
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
American journal of human genetics - 3 Sept 2020
Vergnano Marta, Mockenhaupt Maja, Benzian-Olsson Natashia, Paulmann Maren, Grys Katarzyna, Mahil Satveer K, Chaloner Charlotte, Barbosa Ines A, August Suzannah, Burden A David, Choon Siew-Eng, Cooper Hywel, Navarini Alex A, Reynolds Nick J, Wahie Shyamal, Warren Richard B, Wright Andrew, Huffmeier Ulrike, Baum Patrick, Visvanathan Sudha, Barker Jonathan N, Smith Catherine H, Capon Francesca
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 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...
Topics
- 4-Aminobenzoic Acid
- Adult
- Aged
- Aged, 80 and over
- Cell Line
- Female
- Genotype
- Humans
- Loss of Function Mutation