Activated PI3K-delta syndrome in an Egyptian pediatric cohort with primary immune deficiency
Allergol. immunopatol
; 48(6): 686-693, nov.-dic. 2020. graf, tab
Artigo
em Inglês
| IBECS
| ID: ibc-199259
Biblioteca responsável:
ES1.1
Localização: BNCS
ABSTRACT
BACKGROUND:
Activated Phospho-Inositide 3 (PI3) Kinases Delta syndrome (APDS) can underlie primary immune deficiency. The prevalence and phenotypic characterization of these patients are not well described in Egypt.OBJECTIVES:
To describe patients with APDS in hospitalized children with recurrent respiratory tract infections with suspected primary immune deficiency.METHODS:
79 patients were included in the study. E1021K and E525K mutations of PI3K δ chain gene were screened by Sanger sequencing technique.RESULTS:
one patient was heterozygous to E1021K mutation; a female child was diagnosed clinically as Combined Immune Deficiency with CD4 and B lymphopenia and markedly deficient IgG and increased IgM. The E525K mutation was not detected in our cohort.CONCLUSIONS:
Screening for APDS in patients with recurrent respiratory tract infections with undefined antibody deficiency or combined immune deficiency with or without bronchiectasis is required. These patients need great attention to benefit from the available treatment. Further studies on the Egyptian population are recommended to increase the knowledge about the prevalence and phenotypic characterization of this disease in EgyptRESUMEN
No disponible
Buscar no Google
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Infecções Respiratórias
/
Síndromes de Imunodeficiência
Limite:
Criança
/
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
País/Região como assunto:
África
Idioma:
Inglês
Revista:
Allergol. immunopatol
Ano de publicação:
2020
Tipo de documento:
Artigo
Instituição/País de afiliação:
Zagazig University/Egypt