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Article

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

PloS one - 1 Jan 2014

Moens Lotte N, Falk-Sörqvist Elin, Asplund A Charlotta, Bernatowska Ewa, Smith C I Edvard, Nilsson Mats

Abstract excerpt

Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to infection. Due to the variety of clinical symptoms and the complexity of current diagnostic procedures, accurate diagnosis of PID is often difficult in daily clinical practice. Thanks to the advent of "next generation" sequencing technologies and target...

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Identifiers

PMID: 25502423
DOI: 10.1371/journal.pone.0114901
PMCID: PMC4263707

Genes

IGLL1
PGM3
STAT3

Provenance

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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