Der ADA2-Mangel ist eine autosomal rezessive Erkrankung, die durch Mutationen im ADA2-Gen ausgelöst wird und durch Vasculitis, Autoinflammation, Immunodefizit, und Hämatologische Defekte gekennzeichnet ist.
1. |
Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2. |
2. |
Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. |
3. |
Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. |
4. |
None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2. |
5. |
van Montfrans J et. al. (2014) Mutant ADA2 in vasculopathies. |
6. |
Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies. |
7. |
Van Eyck L et. al. (2014) Mutant ADA2 in vasculopathies. |