A mutation in the promoter region of BTK causes atypical XLA

X-linked Agammaglobulinemia is a primary immunodeficiency caused by mutations in BTK, a tyrosine kinase essential for B lymphocytes differentiation. Patients usually have very low or absent B lymphocytes and are not able to develop humoral specific responses. Here we present a boy, diagnosed with XL...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Heliyon
Main Authors: Bravo García-Morato, María, del Pino Molina, Lucía, Torres Canizales, Juan Manuel, del Rosal Rabes, Teresa, Méndez Echevarría, Ana, González Martínez, Berta, López-Granados, Eduardo, Rodríguez Pena, Rebeca
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7501425/
https://ncbi.nlm.nih.gov/pubmed/32995611
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.heliyon.2020.e04914
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados