Article

Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system

2026-03-06

Abstract excerpt

Here we describe a damaging heterozygous variant in CDC45 in an individual with common variable immunodeficiency (CVID) and recurrent viral infections. This individual has variably decreased number of circulating NK cells, disruption in the ratio of CD56 bright to CD56 dim cells, and consistently decreased NK cell function. Interestingly, the inherited CDC45 variant is also present in a sibling with less severe...

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Literature Corpus work: d48c4a56-0bc4-548f-8825-5ba13ed30ff0
DOI: 10.64898/2026.03.04.709645

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