Deficiency of adenosine deaminase 2 (DADA2): management

Blood investigations

• Raised acute phase reactants
• Hypogammaglobulinemia
• Lymphopenia
• Low haemoglobin
• Autoimmune haemolytic anaemia
• Thrombocytopenia
• Neutrophilic leukocytosis
• Pure red cell aplasia
• Pancytopenia
• Raised transaminases

Magnetic resonance imaging (MRI)

Skin biopsy

Treatment

Acronym

References

1. Caorsi R, Penco F, Schena F, Gattorno M. Monogenic polyarteritis: the lesson of ADA2 deficiency. Pediatr Rheumatol Online J 2016; 14:51.
2. Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol 2018; 38:569-578.
3. Moens L, Hershfield M, Arts K, Aksentijevich I, Meyts I. Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity. Immunol Rev 2019; 287:62-72.
4. Pinto B, Deo P, Sharma S, Syal A, Sharma A. Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment. Clin Rheumatol 2021; 40:3883-3896.
5. Kendall JL, Springer JM. The many faces of a monogenic autoinflammatory disease: adenosine deaminase 2 deficiency. Curr Rheumatol Rep 2020; 22:64. 
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