ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters
F Uettwiller, G Sarrabay, M P Rodero, G I Rice, E Lagrue, Y Marot, K Deiva, I Touitou, Y J Crow, P Quartier
RMD Open May 2016, 2 (1) e000236; DOI: 10.1136/rmdopen-2015-000236