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Article

"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.

Frontiers in immunology - 1 Jan 2018

Jung Sophie, Gámez-Díaz Laura, Proietti Michele, Grimbacher Bodo

Abstract excerpt

Primary immunodeficiencies (PIDs) represent a group of mostly monogenic disorders caused by loss- or gain-of-function mutations in over 340 known genes that lead to abnormalities in the development and/or the function of the immune system. However, mutations in different genes can affect the same cell-signaling pathway and result in overlapping clinical phenotypes. In particular, mutations in the genes encoding...

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Source

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Identifiers

PMID: 29867948
DOI: 10.3389/fimmu.2018.00966
PMCID: PMC5954032

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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