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Article

Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia.

Scandinavian journal of immunology - 1 Nov 2010

Zhang Z-Y, Zhao X-D, Jiang L-P, Liu E-M, Wang M, Yu J, Liu P, Yang X-Q

Abstract excerpt

Congenital agammaglobulinemia is a humoral primary immunodeficiency and affected patients have extremely low levels of peripheral B cells and profound deficiency of all immunoglobulin isotypes. Mutations of the Bruton's tyrosine kinase (BTK) gene are responsible for most of the congenital agammag...

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Source

Identifiers

PMID: 21039741
DOI: 10.1111/j.1365-3083.2010.02457.x

Genes

BTK
IGLL1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21039741-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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