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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Heliyon
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2020
Gaiak:
Case Report
Sarrera elektronikoa: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
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