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Article

Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

Journal of clinical immunology - 1 Nov 2023

Saettini Francesco, Guerra Fabiola, Fazio Grazia, Bugarin Cristina, McMillan Hugh J, Ohtake Akira, Ardissone Anna, Itoh Masayuki, Giglio Sabrina, Cappuccio Gerarda, Giardino Giuliana, Romano Roberta, Quadri Manuel, Gasperini Serena, Moratto Daniele, Chiarini Marco, Akira Ishiguro, Fukuhara Yasuyuki, Hayakawa Itaru, Okazaki Yasushi, Mauri Mario, Piazza Rocco, Cazzaniga Gianni, Biondi Andrea

Abstract excerpt

Biallelic KARS1 mutations cause KARS-related diseases, a rare syndromic condition encompassing central and peripheral nervous system impairment, heart and liver disease, and deafness. KARS1 encodes the t-RNA synthase of lysine, an aminoacyl-tRNA synthetase, involved in different physiological mechanisms (such as angiogenesis, post-translational modifications, translation initiation, autophagy and mitochondrial...

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Identifiers

PMID: 37770806
DOI: 10.1007/s10875-023-01584-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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