Recent advances in understanding the pathogenesis and management of reticular dysgenesis.
Br J Haematol
; 180(5): 644-653, 2018 03.
Article
em En
| MEDLINE
| ID: mdl-29270983
ABSTRACT
Reticular Dysgenesis is a rare immunodeficiency which is clinically characterized by the combination of Severe Combined Immunodeficiency (SCID) with agranulocytosis and sensorineural deafness. Mutations in the gene encoding adenylate kinase 2 (AK2) were identified to cause this phenotype. In this review, we will demonstrate important clinical differences between reticular dysgenesis and other SCID entities and summarize recent concepts in the understanding of the pathophysiology of the disease and the management strategies for this difficult condition.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Imunodeficiência Combinada Severa
/
Leucopenia
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Br J Haematol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Alemanha