ArticlebioRxiv : the preprint server for biology2026
Autosomal dominant CDC45 deficiency with allelic expression bias causes a novel genetic disease of the immune system.
Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
13 authors.
Funding
Abstract
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
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