Periodic fever, immunodeficiency, and thrombocytopenia syndrome

Definition:

Periodic fever, immunodeficiency, and thrombocytopenia syndrome (PFITS) is an autosomal recessive immunologic disorder caused by mutations in actin-regulatory gene WDR1. WDR1 is a WD40 repeat protein that interacts with cofilin to promote F-actin severing and depolymerization.

References:

[1]. Ariane S I Standing, et al. Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. J Exp Med. 2017 Jan;214(1):59-71. [Content Brief]

[2]. Julia E Rood, et al. Inherited Autoinflammatory Syndromes. Annu Rev Pathol. 2022 Jan 24;17:227-249. [Content Brief]

[3]. Junya Masumoto, et al. Molecular biology of autoinflammatory diseases. Inflamm Regen. 2021 Oct 11;41(1):33. [Content Brief]

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