Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.

Venetia Bigley, Sheetal Maisuria,Urszula Cytlak,Laura Jardine,Matthew A Care,Kile Green,Merry Gunawan,Paul Milne,Rachel Dickinson,Sarah Wiscombe,David Parry,Rainer Doffinger,Arian Laurence, Claudia Fonseca, Oda Stoevesandt,Andrew Gennery,Andrew Cant,Reuben Tooze,A John Simpson,Sophie Hambleton,Sinisa Savic,Gina Doody,Matthew Collin

Journal of Allergy and Clinical Immunology（2018）

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摘要

This analysis defines the clinical features of human biallelic IRF8 deficiency, revealing a complex immunodeficiency syndrome caused by DC and monocyte deficiency combined with widespread immune dysregulation.

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关键词

Interferon regulatory factor 8,immunodeficiency,dendritic cell,monocyte,myeloproliferation,interferon

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