Paediatrics and Child Health
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan.
Journal of Pakistan Medical Association
Zaidi, S. K.,
Qamar, F. N.
(2017). X-linked agammaglobulinemia - first case with bruton tyrosine kinase mutation from Pakistan. Journal of Pakistan Medical Association, 67(3), 471-473.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/647