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Article

Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.

Allergologia et immunopathologia - 1 Jan 2000

Doğruel D, Serbes M, Şaşihüseyinoğlu A Ş, Yılmaz M, Altıntaş D U, Bişgin A

Abstract excerpt

BACKGROUND: X-linked agammaglobulinemia (XLA) is characterized by absent or severely reduced B cells, low or undetectable immunoglobulin levels, and clinically by extracellular bacterial infections which mainly compromise the respiratory tract. We aimed to analyze the clinical, immunological and genetic characteristics of 22 male children with XLA. METHODS: Twenty-two children with XLA from 12 unrelated families...

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Source

Identifiers

PMID: 30072168
DOI: 10.1016/j.aller.2018.03.004

Genes

BTK

Variants

Provenance

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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