X-linked agammaglobulinemia - first case with bruton tyrosine kinase mutation from Pakistan. | [Journal of Pakistan Medical Association • 2017]

Author(s):

1. Samreen Kulsom Zaidi: Department of Paediatrics and Child Health, The Aga Khan University Hospital,Karachi,Pakistan

2. Sonia Qureshi: Department of Paediatrics and Child Health, The Aga Khan University Hospital,Karachi,Pakistan

3. Farah Naz Qamar: Department 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.

Page(s): 471-473

DOI: DOI not available

Published: Journal: Journal of Pakistan Medical Association, Volume: 67, Issue: 3, Year: 2017

Keywords:

Bruton type agammaglobulinemia

References:

References are not available for this document.

Citations

Citations are not available for this document.

Citations

Downloads

Views