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Article

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.

Journal of clinical immunology - 22 May 2024

Toskov Vasil, Kaiser-Labusch Petra, Lee-Kirsch Min Ae, Ehl Stephan, Wegehaupt Oliver

Abstract excerpt

Mutations in genes of the DNA polymerase complex have been linked to impaired immunological function next to distinct syndromic features. Biallelic mutations in PRIM1 are associated with a primordial dwarfism syndrome with variable hypogammaglobulinemia. The disease is mostly lethal in infancy due to pulmonary infections as well as hepatic cirrhosis. We studied 3 novel patients with PRIM1-deficiency with a focus...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38773012
DOI: 10.1007/s10875-024-01733-6
PMCID: PMC11108906

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