Article
Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations.
Journal of clinical immunology - 1 Feb 2015
Ip Winnie, Gaspar H Bobby, Kleta Robert, Chanudet Estelle, Bacchelli Chiara, Pitts Alison, Nademi Zohreh, Davies E Graham, Slatter Mary A, Amrolia Persis, Rao Kanchan, Veys Paul, Gennery Andrew R, Qasim Waseem
Abstract excerpt
PURPOSE: Mutations in RMRP primarily give rise to Cartilage Hair Hypoplasia (CHH), a highly diverse skeletal disorder which can be associated with severe immunodeficiency. Increased availability of RMRP mutation screening has uncovered a number of infants with significant immunodeficiency but only mild or absent skeletal features. We surveyed the clinical and immunological phenotype of children who have undergone...
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