deficiency of adenosine deaminase 2
Findings
No curated finding names deficiency of adenosine deaminase 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autoinflammatory disease characterized by a broad clinical phenotype of systemic inflammation, vasculitis, early-onset stroke, immunodeficiency and bone marrow failure. The disease typically presents in young children, although adult cases are being discovered.
Definition from the Mondo Disease Ontology (MONDO:0014306), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
58 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AphasiaHPOHP:0002381
- 1 of 1 reported patient
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 1 of 1 reported patient
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 5 of 5 reported patients
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient
- Oral ulcerHPOHP:0000155
- 1 of 1 reported patient
- Recurrent otitis mediaHPO
Show the remaining 46
- Livedo racemosaHPOHP:0033260
- 11 of 15 reported patients
- Cutis marmorataHPOHP:0000965
- 13 of 19 reported patients
- Raynaud phenomenonHPOHP:0030880
- 12 of 19 reported patients
- ThrombocytosisHPOHP:0001894
- 3 of 5 reported patients
- Urticarial plaqueHPOHP:0030351
- 3 of 5 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 5 of 9 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADA2HGNC:1839
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: deficiency of adenosine deaminase 2
- Also called
- ADA2 deficiencyadenosine deaminase 2 deficiencychildhood-onset polyarteritis nodosaDADA2polyarteritis nodosa, childhood-onsetvasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome