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First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in ATP7B and BTK genes.

Allergologia et immunopathologia - 1 Jan 2023

Olaya-Hernandez Manuela, Aristizábal-Henao Carolina, Perez-Camacho Paola, Patiño-Niño Jaime, Medina-Valencia Diego, Botero-Osorio Veronica, Pachajoa Harry

Abstract excerpt

INTRODUCTION: Wilson disease is characterized by an alteration in copper metabolism that causes its accumulation in different tissues. Its diagnosis is established by the combination of clinical manifestations and paraclinical and genetic studies. Bruton agammaglobulinemia is an X-linked recessive hereditary disease belonging to the group of primary immunodeficiencies and is produced by mutation in the Bruton...

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Identifiers

PMID: 37169567
DOI: 10.15586/aei.v51i3.770

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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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