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Article

X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan.

JPMA. The Journal of the Pakistan Medical Association - 1 Mar 2017

Zaidi Samreen Kulsom, Qureshi Sonia, Qamar Farah Naz

Abstract excerpt

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...

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PMID: 28304004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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