DISEASE: Periodic fever, immunodeficiency, and thrombocytopenia syndrome
Entry
H02589 Disease
Name
Periodic fever, immunodeficiency, and thrombocytopenia syndrome
Description
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.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
Autoinflammatory disorders
4A60 Monogenic autoinflammatory syndromes
H02589 Periodic fever, immunodeficiency, and thrombocytopenia syndrome
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
Title
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.
