MHC class II deficiency: Report of a novel mutation and special review
Allergol. immunopatol
; 46(3): 263-275, mayo-jun. 2018. tab, ilus
Artigo
em Inglês
| IBECS
| ID: ibc-172946
Biblioteca responsável:
ES1.1
Localização: BNCS
RESUMEN
The MHC II deficiency is a rare autosomal recessive primary immunodeficiency syndrome with increased susceptibility to respiratory and gastrointestinal infections, failure to thrive and early mortality. This syndrome is caused by mutations in transcription regulators of the MHC II gene and results in development of blind lymphocytes due to the lack of indicatory MHC II molecules. Despite homogeneity of clinical manifestations of patients with MHC II deficiency, the genetic defects underlying this disease are heterogeneous. Herein, we report an Iranian patient with MHC II deficiency harbouring a novel mutation in RFXANK and novel misleading clinical features. He had ataxic gait and dysarthria from 30 months of age. Epidemiology, clinical and immunological features, therapeutic options and prognosis of patients with MHC II are reviewed in this paper
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Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Fatores de Transcrição
/
Antígenos de Histocompatibilidade Classe II
/
Síndromes de Imunodeficiência
/
Complexo Principal de Histocompatibilidade
Tipo de estudo:
Estudo prognóstico
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Allergol. immunopatol
Ano de publicação:
2018
Tipo de documento:
Artigo
Instituição/País de afiliação:
Bushehr University of Medical Sciences/Iran
/
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases/Austria
/
Medical University Vienna/Austria
/
Tehran University of Medical Science/Iran