Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.

doi:10.1016/j.jaci.2024.06.018

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Article

Human DNA-dependent protein kinase catalytic subunit deficiency: A comprehensive review and update.

The Journal of allergy and clinical immunology - 1 Nov 2024

Adelon Jihane, Abolhassani Hassan, Esenboga Saliha, Fouyssac Fanny, Cagdas Deniz, Tezcan Ilhan, Kuskonmaz Barıs, Cetinkaya Duygu, Suarez Felipe, Mahdaviani Seyed Alireza, Plassart Samira, Mathieu Anne-Laure, Fabien Nicole, Malcus Christophe, Morfin-Sherpa Florence, Billaud Geneviève, Tusseau Maud, Benezech Sarah, Walzer Thierry, De Villartay Jean-Pierre, Bertrand Yves, Belot Alexandre

Abstract excerpt

BACKGROUND: DNA-dependent protein kinase catalytic subunit (DNA-PKcs) has an essential role in the non-homologous end-joining pathway that repairs DNA double-strand breaks in V(D)J recombination involved in the expression of T- and B-cell receptors. Whereas homozygous mutations in Prkdc define the Scid mouse, a model that has been widely used in biology, human mutations in PRKDC are extremely rare and the disease...

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PMID: 38977084
DOI: 10.1016/j.jaci.2024.06.018

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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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