AI Article Synopsis
- DADA2 is a genetic condition caused by mutations in the adenosine deaminase 2 gene, leading to symptoms like skin inflammation and strokes.* -
- Diagnosis is confirmed through low ADA2 enzyme activity and genetic testing, with early hematologic issues like low immunoglobulin levels and reduced blood cell counts.* -
- Treatment includes using tumor necrosis factor inhibitors for inflammation and possibly hematopoietic stem cell transplants for severe cases.*
Article Abstract
Deficiency of adenosine deaminase 2 (DADA2) is a monogenic vasculitis syndrome caused by biallelic mutations in the adenosine deaminase 2 gene. The diagnosis of DADA2 is confirmed by decreased enzymatic activity of ADA2 and genetic testing. Symptoms range from cutaneous vasculitis and polyarteritis nodosa-like lesions to stroke. The vasculopathy of DADA2 can affect many organ systems, including the gastrointestinal and renal systems. Hematologic manifestations occur early with hypogammaglobulinemia, lymphopenia, pure red cell aplasia, or pancytopenia. Treatment can be challenging. Tumor necrosis factor inhibitors are helpful to control inflammatory symptoms. Hematopoietic stem cell transplant may be needed to treat refractory cytopenias, vasculopathy, or immunodeficiency.
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| http://dx.doi.org/10.1016/j.rdc.2023.06.004 | DOI Listing |
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