Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)


Lee P. Y. , Kellner E. S. , Huang Y., Furutani E., Huang Z., Bainter W., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.145, no.6, pp.1664-1682, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 145 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.1016/j.jaci.2019.12908
  • Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Page Numbers: pp.1664-1682
  • Keywords: Adenosine deaminase 2, DADA2, vasculitis, pure red cell aplasia, bone marrow failure, CELL TRANSPLANTATION RESCUES, POLYARTERITIS-NODOSA, VASCULOPATHY, TYPE-2

Abstract

Background: Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic manifestations including vasculitis and hematologic compromise. A systematic definition of the relationship between adenosine deaminase 2 (ADA2) mutations and clinical phenotype remains unavailable.