| 1 | PFIT, WDR1
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| Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.
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| 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.
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| J Exp Med 214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19.
2017
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| 2 | PFIT, WDR1
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| Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency.
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| Kuhns DB, Fink DL, Choi U, Sweeney C, Lau K, Priel DL, Riva D, Mendez L, Uzel G, Freeman AF, Olivier KN, Anderson VL, Currens R, Mackley V, Kang A, Al-Adeli M, Mace E, Orange JS, Kang E, Lockett SJ, Chen, Steinbach PJ, Hsu AP, Zarember KA, Malech HL, Gallin JI, Holland SM.
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| Blood 128(17):2135-2143. Epub 2016 Aug 24.
2016
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| 3 | PFIT, WDR1
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| Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia.
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| Kile BT, Panopoulos AD, Stirzaker RA, Hacking DF, Tahtamouni LH, Willson TA, Mielke LA, Henley KJ, Zhang JG, Wicks IP, Stevenson WS, Nurden P, Watowich SS, Justice MJ.
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| Blood 110(7):2371-80. Epub 2007 May 21.
2007
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