Deficiency of Adenosine Deaminase 2.
Level 5 - mechanism / opinion, no new human data
Narrative review without systematic methodology or new empirical human data.
PubMed 39120005 · doi:10.4274/tjh.galenos.2024.2024.0265
What was done
This narrative review summarizes the genetic etiology, pathophysiology, diagnostic criteria, clinical manifestations, and therapeutic approaches for adenosine deaminase 2 (ADA2) deficiency.
What was found
The abstract reports no empirical numbers or quantitative data. It outlines that ADA2 deficiency is an autosomal recessive disorder resulting from biallelic loss-of-function *ADA2* mutations and low catalytic activity. The pathophysiology involves elevated inflammatory cytokines (such as TNF-α) and extracellular adenosine-mediated dysregulation of neutrophil extracellular traps. Clinical manifestations encompass vasculitis, strokes, autoinflammation, hematological abnormalities, and immunodeficiency. TNF-α inhibitors are the primary treatment for vasculitis and stroke prevention, whereas hematopoietic stem cell transplantation is utilized for severe hematologic disease.
Why it matters
It consolidates understanding of the expanding phenotypic spectrum of ADA2 deficiency and outlines phenotype-specific management strategies.
Limits
As a narrative review, it provides no quantitative effect sizes, pooled data, or formal search methodology. It presents no new primary clinical or experimental measurements.
Cited by
- supports Deficiency of adenosine deaminase 2 (DADA2) is a genetic disorder causing patients to suffer dozens of strokes from infancy, and treatment with TNF inhibitors prevents recurrent strokes in these patients.