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Article

A novel mutation W388X underlying properdin deficiency in a Finnish family.

Scandinavian journal of immunology - 1 Apr 2012

Helminen M, Seitsonen S, Jarva H, Meri S, Järvelä I E

Abstract excerpt

Properdin deficiency is a rare immunological disorder inherited as an X-chromosomal recessive trait. Properdin deficiency poses a significant risk for severe meningococcal infections. About 20 mutations have been reported to underlie properdin deficiency. Here we report a large Finnish family wit...

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Identifiers

PMID: 22229731
DOI: 10.1111/j.1365-3083.2012.02674.x
PMCID: PMC3306489

Genes

CFP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22229731-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A novel mutation W388X underlying properdin deficiency in a Finnish family.PMID 22229731Read ↗

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