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Article

A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans.

The Journal of clinical investigation - 1 Dec 2003

Sawada Akihisa, Takihara Yoshihiro, Kim Ji Yoo, Matsuda-Hashii Yoshiko, Tokimasa Sadao, Fujisaki Hiroyuki, Kubota Keiko, Endo Hiroko, Onodera Takashi, Ohta Hideaki, Ozono Keiichi, Hara Junichi

Abstract excerpt

A girl with congenital agammaglobulinemia and minor facial anomalies lacked B cells in peripheral blood: karyotypic analysis of white blood cells showed balanced translocation, t(9;20)(q33.2;q12). In the current study, we isolated a novel gene, leucine-rich repeat-containing 8 (LRRC8), at the tra...

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Identifiers

PMID: 14660746
DOI: 10.1172/JCI18937
PMCID: PMC281644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14660746-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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