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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 145 Issue: 6
  • Publication Date: 2020
  • Doi Number: 10.1016/j.jaci.2019.12908
  • Journal Name: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, Agricultural & Environmental Science Database, BIOSIS, CAB Abstracts, EMBASE, Food Science & Technology Abstracts, International Pharmaceutical Abstracts, MEDLINE, Veterinary Science Database
  • 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
  • Bursa Uludag University Affiliated: Yes

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.