Novel
X-linked agammaglobulinemia
agammaglobulinemia
immunodeficiency
mutation
tyrosine kinase
Journal
Allergologia et immunopathologia
ISSN: 1578-1267
Titre abrégé: Allergol Immunopathol (Madr)
Pays: Singapore
ID NLM: 0370073
Informations de publication
Date de publication:
2021
2021
Historique:
received:
23
08
2020
accepted:
11
11
2020
entrez:
28
2
2021
pubmed:
1
3
2021
medline:
21
10
2021
Statut:
epublish
Résumé
X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Bruton's tyrosine kinase (BTK) gene. Mutations in the BTK gene lead to a failure in the development and maturation of B-cell linage. A decreased number of B-cells results in agammaglobulinemia and increased susceptibility to a variety of infections. Therefore, patients with XLA usually manifest with repetitive bacterial infections, such as upper respiratory tract infections, septic arthritis, osteomyelitis, and urinary tract infections, since their infancy. We report a 17-year-old Iranian boy with XLA, referred to us with a history of severe and recurrent episodes of bacterial infections for a period of six years. Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A > T, p.His143Leu). To our knowledge, c.428 A > T has not been reported in the BTK gene.
Identifiants
pubmed: 33641298
doi: 10.15586/aei.v49i2.62
doi:
Substances chimiques
Agammaglobulinaemia Tyrosine Kinase
EC 2.7.10.2
BTK protein, human
EC 2.7.10.2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
80-83Références
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