Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment

Authors

Andrew Grim, Division of Pediatric Rheumatology, Department of Pediatrics, Michigan Medicine, 1500 East Medical Center Drive, Ann Arbor, MI 48109, USA.
Keila R. Veiga, Division of Pediatric Rheumatology, Department of Pediatrics, New York Medical College/Maria Fareri Children's Hospital, 100 Woods Road, Valhalla, NY 10595, USA.Follow
Nadine Saad, 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.

Author Type(s)

Faculty

DOI

10.1016/j.rdc.2023.06.004

Journal Title

Rheumatic Diseases Clinics of North America

First Page

773

Last Page

787

Document Type

Article

Publication Date

11-1-2023

Department

Pediatrics

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.

Recommended Citation

Grim, A., Veiga, K. R., & Saad, N. (2023). Deficiency of Adenosine Deaminase 2: Clinical Manifestations, Diagnosis, and Treatment. Rheumatic Diseases Clinics of North America, 49 (4), 773-787. https://doi.org/10.1016/j.rdc.2023.06.004