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Article

Immunodeficiency mutation databases (IDbases).

Human mutation - 1 Dec 2006

Piirilä Hilkka, Väliaho Jouni, Vihinen Mauno

Abstract excerpt

Primary immunodeficiencies (IDs) are a heterogenic group of inherited disorders of the immune system. Immunodeficiency patients have increased susceptibility to recurrent and persistent, even life-threatening infections. Mutations in a large number of genes can cause defects in different cellular functions and lead to impaired immune response. To date, approximately 150 IDs and more than 100 affected genes have...

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Identifiers

PMID: 17004234
DOI: 10.1002/humu.20405

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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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