Deficiency of adenosine deaminase 2 (DADA2): neurological features
Evidence-based neurology checklist on deficiency of adenosine deaminase 2 (dada2): neurological features: Developmental features Hypotonia Head lag Epilepsy Developmental delay Central neurological features Peripheral neurological features Ophthalmological features
Developmental features
- Hypotonia
- Head lag
- Epilepsy
- Developmental delay
Central neurological features
Peripheral neurological features
Ophthalmological features
References
- Caorsi R, Penco F, Schena F, Gattorno M. Monogenic polyarteritis: the lesson of ADA2 deficiency. Pediatr Rheumatol Online J 2016; 14:51.
- 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.
- 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.
- 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.
- 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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