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Deficiency of adenosine deaminase type 2
Other Resources UpToDate PubMed

Deficiency of adenosine deaminase type 2

Contributors: Vivian Wong MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Deficiency of adenosine deaminase type 2 (DADA2) is a rare multisystem vasculopathic syndrome. It is an autosomal recessive disorder caused by loss-of-function mutations in the Cat Eye Syndrome Chromosome Region Candidate 1 (CECR1) gene on chromosome 22q11, which encodes the adenosine deaminase type 2 (ADA2) enzyme. While some carriers are asymptomatic, many develop significant clinical disease affecting multiple systems, including immunodeficiency with recurrent infections, intermittent fevers, livedo racemosa, childhood-onset polyarteritis nodosa (PAN), and systemic vasculopathy, including early-onset recurrent strokes and Sneddon syndrome. DADA2 syndrome is a rare condition, with an estimated prevalence of 4 per 1 million per year in the general population.

Codes

ICD10CM:
D81.32 – Adenosine deaminase 2 deficiency

SNOMEDCT:
44940001 – Adenosine deaminase deficiency

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

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Therapy

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References

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Last Updated:10/24/2016
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Deficiency of adenosine deaminase type 2
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A medical illustration showing key findings of Deficiency of adenosine deaminase type 2 : Hepatosplenomegaly, Intermittent fevers, Livedo racemosa
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