Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations

Conclusion. This case series revealed large phenotypic variability in patients with ADA2 deficiency though they were homozygous for the same R169Q mutation in CECR1. Disease modifiers, including epigenetic and environmental factors, thus seem important in determining the phenotype. Furthermore, haematopoietic cell transplantation appears promising for those patients with a severe clinical phenotype.

Source: Rheumatology - April 13, 2016 Category: Rheumatology Authors: Van Montfrans, J. M., Hartman, E. A. R., Braun, K. P. J., Hennekam, E. A. M., Hak, E. A., Nederkoorn, P. J., Westendorp, W. F., Bredius, R. G. M., Kollen, W. J. W., Schölvinck, E. H., Legger, G. E., Meyts, I., Liston, A., Lichtenbelt, K. D., Gilta Tags: Immunogenetics CLINICAL SCIENCE Source Type: research