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Article

What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses?

Seminars in immunology - 1 Apr 2018

Fischer Alain, Rausell Antonio

Abstract excerpt

Advances in genomics and medicine have enabled the identification of (currently) 346 primary immunodeficiencies (PIDs) caused by mutations in 336 different genes. Most of these PIDs are monogenic conditions with Mendelian inheritance. Given this large number, it is possible to analyze the distribution of PIDs associated with infections and/or immunopathology according to the nature of the defect - even though...

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PMID: 29229549
DOI: 10.1016/j.smim.2017.12.001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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