X-linked agammaglobulinemia — first case with bruton tyrosine kinase mutation from Pakistan

Samreen Kulsom Zaidi; Sonia Qureshi; Farah Naz Qamar

X-linked agammaglobulinemia — first case with bruton tyrosine kinase mutation from Pakistan

Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar

Research output: Contribution to journal › Article › peer-review

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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.

Original language	English
Pages (from-to)	471-473
Number of pages	3
Journal	Journal of the Pakistan Medical Association
Volume	67
Issue number	3
Publication status	Published - Mar 2017

Keywords

Bruton type agammaglobulinemia
Bruton tyrosine Kinase mutation
Diarrhoea
Whole exome sequencing

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Cite this

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title = "X-linked agammaglobulinemia — first case with bruton tyrosine kinase mutation from 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.",

keywords = "Bruton type agammaglobulinemia, Bruton tyrosine Kinase mutation, Diarrhoea, Whole exome sequencing",

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AU - Zaidi, Samreen Kulsom

AU - Qureshi, Sonia

AU - Qamar, Farah Naz

PY - 2017/3

Y1 - 2017/3

N2 - 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.

AB - 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.

KW - Bruton type agammaglobulinemia

KW - Bruton tyrosine Kinase mutation

KW - Diarrhoea

KW - Whole exome sequencing

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M3 - Article

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AN - SCOPUS:85013661061

SN - 0030-9982

VL - 67

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JO - Journal of the Pakistan Medical Association

JF - Journal of the Pakistan Medical Association

IS - 3

ER -

X-linked agammaglobulinemia — first case with bruton tyrosine kinase mutation from Pakistan

Abstract

Keywords

UN SDGs

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