Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male
Allergol. immunopatol
; 49(2): 80-83, mar. 2021. ilus, tab
Artigo
em Inglês
| IBECS
| ID: ibc-214242
Biblioteca responsável:
ES1.1
Localização: ES15.1 - BNCS
ABSTRACT
Introduction and objectives:
X-linked agammaglobulinemia (XLA), the first known primary immunodeficiency, is caused by rare mutations in Brutons 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. Patients 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. Results Genetic analysis using the whole Exome sequencing revealed a hemizygous missense mutation in the BTK gene (c.428 A > T, p.His143Leu). Conclusion To our knowledge, c.428 A > T has not been reported in the BTK gene (AU)
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Agamaglobulinemia
/
Doenças Genéticas Ligadas ao Cromossomo X
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Tirosina Quinase da Agamaglobulinemia
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Allergol. immunopatol
Ano de publicação:
2021
Tipo de documento:
Artigo
Instituição/País de afiliação:
Hamedan University of Medical Sciences/Iran
/
Iran University of Medical Sciences/Iran
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Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases/Austria
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Tehran University of Medical Sciences/Iran
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Universal Scientific Education and Research Network (USERN)/Iran