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.
authors.affiliation: Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
authors.forename: Samreen Kulsom
authors.initials: SK
authors.lastname: Zaidi
authors.affiliation: Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
authors.forename: Sonia
authors.initials: S
authors.lastname: Qureshi
authors.affiliation: Department of Paediatrics and Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
authors.forename: Farah Naz
authors.initials: FN
authors.lastname: Qamar
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase / Q000235:genetics*; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use; D008297:Male; D009154:Mutation / Q000235:genetics; D010154:Pakistan
chemical_list: D016756:Immunoglobulins, Intravenous; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human
keywords: Bruton type agammaglobulinemia, Bruton tyrosine Kinase mutation, Whole exome sequencing, Diarrhoea.
  