First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in
BTK
Bruton
Wilson
agammaglobulinemia
Journal
Allergologia et immunopathologia
ISSN: 1578-1267
Titre abrégé: Allergol Immunopathol (Madr)
Pays: Singapore
ID NLM: 0370073
Informations de publication
Date de publication:
2023
2023
Historique:
received:
05
09
2022
accepted:
14
03
2023
medline:
15
5
2023
pubmed:
12
5
2023
entrez:
11
5
2023
Statut:
epublish
Résumé
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 A 14-year-old Colombian patient with clinical characteristics of Bruton agammaglobulinemia presented with liver disease and clinically and molecularly diagnosed with Wilson disease. Bruton agammaglobulinemia and Wilson disease are considered rare diseases because of their low prevalence. We report for the first time a pediatric patient from southwestern Colombia presenting with both entities, and diagnosed clinically and molecularly, an association so far not reported in the literature.
Identifiants
pubmed: 37169567
doi: 10.15586/aei.v51i3.770
doi:
Substances chimiques
Agammaglobulinaemia Tyrosine Kinase
EC 2.7.10.2
Protein-Tyrosine Kinases
EC 2.7.10.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
108-110Déclaration de conflit d'intérêts
The authors have no conflicts of interest to declare.
Références
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