Vasculitis due to ADA2 deficiency

ADA2 deficiency is an autosomal recessive disorder caused by mutations of the ADA2 gene. The syndromic disease includes vasculitis, autoinflammation, immunodeficiency, and hematologic defects.

Systematic

Systemic autoinflammatory disease
	ADA2 deficiency
	Cryopyrin-associated periodic syndrome
	Mevalonate kinase-associated inflammatory diseases
	NOD2-associated disease
	Pyrin-associated autoinflammatory disease

References:

1.	Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2.

2.	Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

3.	Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

4.	None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

5.	van Montfrans J et. al. (2014) Mutant ADA2 in vasculopathies.

6.	Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies.

7.	Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies.

Update: June 23, 2025

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