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A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics

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The few reported sufferers with pathogenic IRF8 variants have manifested 2 distinct phenotypes: (1) an autosomal recessive extreme immunodeficiency with important neutrophilia and absence of or important lower in monocytes and dendritic cells and (2) a dominant-negative kind with solely a lower in typical kind 2 dendritic cells (cDC2s) and susceptibility to mycobacterial illness.

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