Another Exciting Data—HCT Successfully Cured Patients with DADA2

Excerpt

The deficiency of adenosine deaminase 2 (DADA2) is an inborn error of immunity (IEI) caused by biallelic mutations in ADA2. Clinical phenotypes of patients with DADA2 are variable. The major clinical feature is a vasculitis of small- and medium-sized arteries ranging from livedo racemosa and polyarteritis nodosa to life-threatening ischemic stroke [1]. The patients exhibit inflammatory phenotypes with fever and can present immunodeficiencies such as hypogammaglobulinemia and susceptibility to viral infections. Other important manifestations include cytopenia due to T cell–mediated or bone marrow failure. Lymphoproliferation and hematological malignancy including myelodysplastic syndrome and large granular lymphocyte leukemia are also important features of DADA2. Case mortality is estimated to be around 8%. …