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Condition report · Immunological

DADA2 (ADA2 Deficiency)

An inherited condition caused by changes in the ADA2 gene that leads to inflammation of blood vessels, early strokes, low blood counts and reduced antibody levels. Symptoms usually begin in childhood but can first appear in adults.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Deficiency of adenosine deaminase 2

Autosomal recessive

Loss of the ADA2 enzyme causes blood vessel inflammation, which can lead to strokes, skin rashes, and problems with the blood and immune system.

What a diagnosis changes

Anti-TNF treatment greatly reduces the risk of strokes, and a stem cell transplant can treat the blood and immune problems.

Genes analysed

Also known as

ADA2 deficiency; adenosine deaminase 2 deficiency; childhood-onset polyarteritis nodosa; DADA2; PAN; vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome

MONDO:0014306OMIM 615688Orphanet 404553MedGen 854497

Limitations

  • Deletions of one or more ADA2 exons are a common cause of DADA2 in some populations; these require copy number analysis and may not be detected.

Other immunological conditions

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