Changchang Li

X-Linked Agammaglobulinemia with De novo BTK Mutations in Chinese Children: A Case Report and Literature Review

X-linked agammaglobulinemia (XLA) is a rare primary immunodeficiency caused by Bruton’s tyrosine kinase ( BTK ) mutations that lead to defective B-cell development and severe antibody deficiency. This study aimed to describe a novel de novo BTK mutation in a Chinese child and sum...