Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0018991 (
hemiplegia
)
3,997
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan. 2830 4
