Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) is an autosomal recessive disorder caused ba mutations of the WDR1 gene.
1. |
Adler HJ et al. (1999) A gene upregulated in the acoustically damaged chick basilar papilla encodes a novel WD40 repeat protein. |
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Kile BT et al. (2007) Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia. |
3. |
Standing AS et al. (2017) Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. |