Article
Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis.
BMC neurology - 12 Dec 2019
Zhang Ya-Ni, Gao Yuan-Yuan, Yang Si-Da, Cao Bin-Bin, Zheng Ke-Lu, Wei Ping, Chen Lian-Feng, Chen Wen-Xiong
Abstract excerpt
BACKGROUND: X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK), which may cause serious recurrent infections. The diagnosis of XLA is sometimes challenging because a few number of patients have higher levels of serum immunoglobulins than expected. In this...
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