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X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan
Samreen Kulsom Zaidi1, Sonia Qureshi1, Farah Naz Qamar1
1Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
Abstract:
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.
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