The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort

• Published in: Frontiers in immunology Vol. 12; p. 811473
• Main Authors: Barron, Karyl S., Aksentijevich, Ivona, Deuitch, Natalie T., Stone, Deborah L., Hoffmann, Patrycja, Videgar-Laird, Ryan, Soldatos, Ariane, Bergerson, Jenna, Toro, Camilo, Cudrici, Cornelia, Nehrebecky, Michele, Romeo, Tina, Jones, Anne, Boehm, Manfred, Kanakry, Jennifer A., Dimitrova, Dimana, Calvo, Katherine R., Alao, Hawwa, Kapuria, Devika, Ben-Yakov, Gil, Pichard, Dominique C., Hathaway, Londa, Brofferio, Alessandra, McRae, Elisa, Moura, Natalia Sampaio, Schnappauf, Oskar, Rosenzweig, Sofia, Heller, Theo, Cowen, Edward W., Kastner, Daniel L., Ombrello, Amanda K.
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 10.01.2022
• Subjects: ADA2; Adenosine Deaminase - deficiency; Adolescent; Adult; Aged; Child; Child, Preschool; Cohort Studies; COVID-19 - metabolism; deficiency of adenosine deaminase 2 (DADA2); Female; hematopoietic cell transplantation (HCT); Hematopoietic Stem Cell Transplantation - methods; Humans; immune dysregulation; Immunology; Infant; Intercellular Signaling Peptides and Proteins - deficiency; lacunar strokes; Longitudinal Studies; Male; Middle Aged; Tumor Necrosis Factor Inhibitors - metabolism; vasculopathy; Young Adult; anti-TNF therapy; bone marrow failure; hematopoietic cell transplantation (HCT); lacunar strokes; deficiency of adenosine deaminase 2 (DADA2); ADA2; vasculopathy; immune dysregulation

The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessively inherited disease that has undergone extensive phenotypic expansion since being first described in patients with fevers, recurrent strokes, livedo racemosa, and polyarteritis nodosa in 2014. It is now recognized that patient...