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Article

B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia.

Immunologic research - 1 Apr 2022

Toker Ori, Broides Arnon, Lev Atar, Simon Amos J, Megged Orli, Shamriz Oded, Tal Yuval, Somech Raz, Lee Yu Nee, Nahum Amit

Abstract excerpt

X-linked agammaglobulinemia (XLA) is caused by mutations in the Bruton tyrosine kinase) BTK) gene. Affected patients have severely reduced amounts of circulating B cells. Patients with atypical XLA may have residual circulating B cells, and there are few studies exploring these cells' repertoire. We aimed to study the B cell repertoire of a novel hypomorphic mutation in the BTK gene, using the next generation...

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Identifiers

PMID: 35001352
DOI: 10.1007/s12026-022-09263-2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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