布鲁顿酪氨酸激酶
X连锁无丙种球蛋白血症
医学
疾病
突变
基因
酪氨酸激酶
免疫学
遗传学
内科学
生物
受体
作者
Manuela Olaya,Carolina Aristizábal,Paola Perez Camacho,Jaime Patiño,Diego Medina-Valencia,Verónica Botero,Harry Pachajoa
出处
期刊:Allergologia et immunopathologia
[Codon Publications]
日期:2023-05-01
卷期号:51 (3): 108-110
标识
DOI:10.15586/aei.v51i3.770
摘要
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 tyrosine kinase (BTK) gene.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.
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