Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood
Arthritis & Rheumatology2017Vol. 69(8), pp. 1689–1700
Citations Over TimeTop 10% of 2017 papers
Johanna Schepp, Michele Proietti, Natalie Frede, Mary Buchta, Katrin Hübscher, Jessica Rojas Restrepo, Sigune Goldacker, Klaus Warnatz, Jana Pachlopnik Schmid, Andrea Duppenthaler, Vassilios Lougaris, Ignacio Uriarte, Susan J. Kelly, Michael S. Hershfield, Bodo Grimbacher
Abstract
Taken together, our findings indicate that DADA2 presents not only with vasculopathy but also with an immunodeficiency of the B cell compartment. Therefore, patients with antibody deficiency should be screened for DADA2. Anti-tumor necrosis factor treatment might improve immunologic features over time and might be considered in patients without vascular manifestations but with elevated inflammation markers. Conservative management has so far proven to be the choice for our less severely affected adolescent and adult DADA2 patients; however, in patients with severe cytopenias and bone marrow failure, hematopoietic stem cell transplantation should be considered.
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