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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients

24 Dec 2024

Abstract excerpt

Ataxia telangiectasia and Rad3-related (ATR) kinase and its interacting protein ATRIP orchestrate the replication stress response. Homozygous splice variants in the ATRIP gene, resulting in ATRIP deficiency, were identified in two patients of independent ancestry with microcephaly, primordial dwarfism, and recurrent infections. The c.829+5G>T patient exhibited lymphopenia, poor vaccine responses, autoimmune...

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PMID: 40029331
DOI: 10.1084/jem.20241432

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