Video: Every Case Tells a Story| Webinar: ACR/CHEST ILD Guidelines in Practice

An official publication of the ACR and the ARP serving rheumatologists and rheumatology professionals

DADA2: A New Disease for Rheumatologists to Understand

  |  Issue: January 2019  |  

Jason LiebowitzJason Liebowitz, MD, is a second-year fellow in rheumatology at Johns Hopkins University. He earned his MD from Johns Hopkins University School of Medicine and completed his residency at Johns Hopkins Bayview.

References

  1. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014 Mar 6;370(10):911–920.
  2. Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014 Mar 6;370(10):921–931.

Related Articles

    DADA2 Research Reveals Mechanisms & Possible Gene Therapy

    SAN DIEGO—An increasing number of patients is being identified with deficiency of adenosine deaminase type 2 (DADA2); fortunately, researchers and clinicians continue to better understand the genetic disease as well, experts said in a session at the 2017 ACR/ARHP Annual Meeting Nov. 3–8. The childhood-onset disease involves loss-of-function mutations to the CECR1 gene (i.e., cat…

    New Study Sheds Light on Deficiency of Adenosine Deaminase 2 (DADA2)

    Since it was first described, the spectrum of disease caused by deficiency of adenosine deaminase 2 (DADA2) has been broadening. Features described include systemic vascular and inflammatory features and recurrent stroke, which overlap with childhood-onset poly­arteritis nodosa (PAN). Previous data show that DADA2 has extensive genotypic and phenotypic variation.1 Results from a recently published study…