Deficiency of adenosine deaminase type 2
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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
D81.32 – Adenosine deaminase 2 deficiency
SNOMEDCT:
44940001 – Adenosine deaminase deficiency
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Diagnostic Pearls
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Differential Diagnosis & Pitfalls
Differential for PAN:
- Pyoderma gangrenosum
- Antiphospholipid antibody syndrome
- Necrotizing vasculitis
- Cryoglobulinemia
- Cryofibrinogenemia
- Cutaneous anthrax
- Necrotizing fasciitis
- Acute meningococcemia
- Calciphylaxis
- Disseminated intravascular coagulation (DIC)
- Microscopic polyangiitis
- Immunoglobulin A vasculitis (formerly Henoch-Schönlein purpura)
- Lupus erythematosus (SLE)
- Eosinophilic granulomatosis with polyangiitis (formerly known as Churg-Strauss syndrome)
- Thrombotic thrombocytopenic purpura (TTP)
- Granulomatosis with polyangiitis (formerly known as Wegener granulomatosis)
- Sarcoidosis
- Sporotrichosis
- Erythema nodosum
- Erythema induratum
- Lymphomatoid granulomatosis
- Mucormycosis
- Cocaine levamisole toxicity
- Livedo reticularis
- Livedoid vasculopathy
- Erythema ab igne
- Cutis marmorata telangiectatica congenita
- Collagen vascular diseases or vasculitis (polyarteritis nodosa, SLE, rheumatoid arthritis, dermatomyositis)
- Hematologic or hypercoagulable conditions (antiphospholipid antibody syndrome, cryoglobulinemia, polycythemia vera, protein C or S deficiency, heparin-induced thrombocytopenia, TTP / hemolytic-uremic syndrome, paroxysmal nocturnal hemoglobinuria, etc)
- Livedoid vasculopathy
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Therapy
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References
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Last Updated:12/13/2018