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X-linked agammaglobulinemia — first case with bruton tyrosine kinase mutation from Pakistan
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نویسنده
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zaidi s.k. ,qureshi s. ,qamar f.n.
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منبع
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journal of the pakistan medical association - 2017 - دوره : 67 - شماره : 3 - صفحه:471 -473
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چکیده
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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. © 2017,pakistan medical association. all rights reserved.
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کلیدواژه
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Bruton type agammaglobulinemia; Bruton tyrosine Kinase mutation; Diarrhoea; Whole exome sequencing
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آدرس
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department of paediatrics and child health,the aga khan university hospital,karachi, Pakistan, department of paediatrics and child health,the aga khan university hospital,karachi, Pakistan, department of paediatrics and child health,the aga khan university hospital,karachi, Pakistan
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Authors
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