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

Author(s)

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

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

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.

Publication Details

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

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