Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.
Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA.
Standing AS, et al. Among authors: nowak k.
J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19.
J Exp Med. 2017.
PMID: 27994071
Free PMC article.