Can I read Deficiency of adenosine deaminase 2 (DADA2): Review on EtoBox?
Deficiency of adenosine deaminase 2 (DADA2): Review by Vikas Sharma; Prateek Deo; Aman Sharma is a Medicine article available to read on EtoBox.
What is Deficiency of adenosine deaminase 2 (DADA2): Review about?
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. Reco
Who reads Deficiency of adenosine deaminase 2 (DADA2): Review?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Vikas Sharma; Prateek Deo; Aman Sharma
- Publisher
- Elsevier BV
- Published
- 2023
- Language
- EN
- Field
- Medicine (Health Sciences)