Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment.
| Autor: | Grim A; Division of Pediatric Rheumatology, Department of Pediatrics, Michigan Medicine, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA., Veiga KR; Division of Pediatric Rheumatology, Department of Pediatrics, New York Medical College/Maria Fareri Children's Hospital, 100 Woods Road, Valhalla, NY 10595, USA., Saad N; Division of Pediatric Rheumatology, Department of Pediatrics, Michigan Medicine, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA. Electronic address: nmsaad@med.umich.edu. |
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| Jazyk: | angličtina |
| Zdroj: | Rheumatic diseases clinics of North America [Rheum Dis Clin North Am] 2023 Nov; Vol. 49 (4), pp. 773-787. Date of Electronic Publication: 2023 Aug 01. |
| DOI: | 10.1016/j.rdc.2023.06.004 |
| Abstrakt: | 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. (Copyright © 2023 Elsevier Inc. All rights reserved.) |
| Databáze: | MEDLINE |
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