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Article

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.

Human mutation - 1 Sept 2010

Wang Hong-Ying, Gopalan Vivek, Aksentijevich Ivona, Yeager Meredith, Ma Chi Adrian, Mohamoud Yasmin Ali, Quinones Mariam, Matthews Casey, Boland Joseph, Niemela Julie E, Torgerson Troy R, Giliani Silvia, Uzel Gulbu, Orange Jordan S, Shapiro Ralph, Notarangelo Luigi, Ochs Hans D, Fleisher Thomas, Kastner Daniel, Chanock Stephen J, Jain Ashish

Abstract excerpt

Hyper-IgM syndrome and Common Variable Immunodeficiency are heterogeneous disorders characterized by a predisposition to serious infection and impaired or absent neutralizing antibody responses. Although a number of single gene defects have been associated with these immune deficiency disorders,...

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PMID: 20652909
DOI: 10.1002/humu.21322
PMCID: PMC2945728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20652909-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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