Compound heterozygous mutation of IRF8 causes deficiency of dendritic cells and monocytes

【Author】

Venetia Bigley;Sheetal Maisuria;Kile Green;Urszula Cytlak;David A Parry;Rachel E Dickinson;Paul Milne;Merry Gunawan;Muzlifah Haniffa;Andrew Cant;Andrew Gennery;Sophie Hambleton;Reuben Tooze;Sinisa Savic;Gina Doody;Matthew Collin;

【Abstract】

<正>IRF8 is a transcription factor with multiple roles in the development and responses of the immune cells.The phenotype of bi-allelic human IRF8 mutation remains difficult to generalize from the single reported case of homozygous K108E mutation.Here we describe two novel amino acid substitutions R83C and R291Q of IRF8 in a compound heterozygous patient.Immunodeficiency was recognized later in childhood but many features were shared with the K108E homozygote

【Keywords】

mutation;phenotype;childhood;generalize;impaired;invariant;DNA;conserved;interferon;transcripts;

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