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

doi:10.1016/j.jaci.2017.08.044

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Article

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

The Journal of allergy and clinical immunology - 1 Jun 2018

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

Abstract excerpt

BACKGROUND: The homozygous K108E mutation of interferon regulatory factor 8 (IRF8) is reported to cause dendritic cell (DC) and monocyte deficiency. However, more widespread immune dysfunction is predicted from the multiple roles ascribed to IRF8 in immune cell development and function. OBJECTIVE: We sought to describe the effect on hematopoiesis and immunity of the compound heterozygous R83C/R291Q mutation of...

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Identifiers

PMID: 29128673
DOI: 10.1016/j.jaci.2017.08.044
PMCID: PMC5986711

Genes

BATF
CXCR3
JUN

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