Deficiency of adenosine deaminase 2 (DADA2): Review.
Best Pract Res Clin Rheumatol
; 37(1): 101844, 2023 03.
Article
em En
| MEDLINE
| ID: mdl-37328410
ABSTRACT
The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by loss-of-function (LOF) mutations in the ADA2 gene and was first described in 2014. Initially, it was described as vasculopathy/vasculitis that mostly affected infants and young children and closely resembled polyarteritis nodosa (PAN). Skin rash and ischemic/hemorrhagic stroke are predominant symptoms. However, the clinical spectrum of DADA2 has continued to expand since then. It has now been reported in adults as well. Besides vasculitis-related manifestations, hematological, immunological, and autoinflammatory manifestations are now well recognized. More than 100 disease-causing mutations have been described. The decrease in ADA2 enzyme leads to an increased extracellular adenosine level that, in turn, triggers a proinflammatory cascade. The disease is highly variable, and patients carrying same mutation may have different ages of presentation and clinical features. Anti-tumor necrosis factor (TNF) agents are mainstay of treatment of the vasculitis/vasculopathy phenotype. Hematopoietic stem cell transplant (HSCT) has been performed in patients with severe hematological manifestations. Recombinant ADA2 protein and gene therapy hold a promise for future.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Poliarterite Nodosa
/
Vasculite
Limite:
Child
/
Child, preschool
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Humans
Idioma:
En
Revista:
Best Pract Res Clin Rheumatol
Assunto da revista:
REUMATOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Índia