Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia [version 2; referees: 2 approved]

X-linked agammaglobulinemia (XLA) is an extremely rare inherited primary immunodeficiency characterized by recurrent bacterial infections, decrease in number of mature B cells and low serum immunoglobulins. XLA is caused by mutations in the gene encoding Bruton's tyrosine kinase. We report a ca...

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Main Authors: Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu
Format: Article
Language:English
Published: F1000 Research Ltd 2017-08-01
Series:F1000Research
Subjects:
Online Access:https://f1000research.com/articles/5-2667/v2