A new CECR1 mutation associated with severe hematological involvement in ADA2 deficiency.
Immun Inflamm Dis
; 11(8): e930, 2023 08.
Article
em En
| MEDLINE
| ID: mdl-37647436
ABSTRACT
BACKGROUND:
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease resulting from loss-of-function mutations in ADA2, formerly named CECR1 (cat eye syndrome chromosome region, candidate 1) gene. Disease manifestations could be separated into three major phenotypes inflammatory/vascular, immune dysregulatory, and hematologic; however, most patients presented with significant overlap between these three phenotype groups. CASE PRESENTATION We present a case of DADA2 deficiency with disease onset at 3 years old, not recognized till the age of 18 with severe gastrointestinal vasculitis and recurrent episodes of neutropenia associated with a new CECR1 mutation.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Adenosina Desaminase
/
Peptídeos e Proteínas de Sinalização Intercelular
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Revista:
Immun Inflamm Dis
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Romênia