Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease — Marta Vergnano (2021) | RDL Network
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
Corrigendum 2021 en
Authors
MV
Marta Vergnano
MM
Maja Mockenhaupt
NB
Natashia Benzian-Olsson
Abstract
1 min read
(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
Marta Vergnano, Maja Mockenhaupt, Natashia Benzian-Olsson, Maren Paulmann, Katarzyna Grys, Satveer K. Mahil, Charlotte Chaloner, Inês A. Barbosa, Suzannah August, A. David Burden, Siew Eng Choon, Hywel Cooper, Alexander A. Navarini, Nick J. Reynolds, Shyamal Wahie, Richard B. Warren, Andrew Wright, Ulrike Hüffmeier, Patrick Baum, Sudha Visvanathan, Juliet N. Barker, Catherine Smith, Francesca Capon, Thamir Abraham, Mahmud Ali, Suzannah August, David Baudry, Anthony Bewley, Hywel Cooper, Christopher Em Griffiths, John R Ingram, Susan J. Kelly, Mohsen Korshid, Effie Ladoyanni, John D. McKenna, Freya Meynell, Richard Parslew, Prakash A. Patel, Angela Pushpa‐Rajah, Nick J. Reynolds, Catherine Smith, Shyamal Wahie, Richard B. Warren, Andrew Wright
Athanasios Niaouris, Ariana Hernández-Cordero, Salma Haddad, Karoliina Hassi, Natashia Benzian-Olsson, Carmen Bugarin Diz, A. David Burden, Hywel Cooper, Christopher Em Griffiths, Richard Parslew, Andrew Pink, Nick J. Reynolds, Shyamal Wahie, Richard B. Warren, Andrew Wright, Michael A. Simpson, Patrick Baum, Sudha Visvanathan, Juliet N. Barker, Catherine Smith, Francesca Capon, Thamir Abraham, Francesca Capon,
Niovi Setta-Kaffetzi, Michael A. Simpson, Alexander A. Navarini, Varsha Patel, Hui-Chun Lu, Michael H. Allen, Michael Duckworth, H. Bachelez, A. David Burden, Siew Eng Choon, Christopher Em Griffiths, Brian Kirby, Antonios G.A. Kolios, Marieke M.B. Seyger, Christa Prins, Asma Smahi, Richard C. Trembath, Franca Fraternali, Catherine Smith, Juliet N. Barker, Francesca Capon
Dorottya M. Berki, Lu Liu, Siew Eng Choon, A. David Burden, Christopher Em Griffiths, Alexander A. Navarini, Eugene Tan, Alan D. Irvine, Annamari Ranki, Takeshi Ogo, Gabriela Petrof, Satveer K. Mahil, Michael Duckworth, Michael H. Allen, Pasquale Vito, Richard C. Trembath, John A. McGrath, Catherine Smith, Francesca Capon, Juliet N. Barker
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