Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency Academic Article uri icon

Overview

MeSH Major

  • B-Lymphocytes
  • Mutation
  • Nuclear Proteins
  • Severe Combined Immunodeficiency

abstract

  • Correlation between the nature and location of DCLRE1C mutations, functional activity, and the clinical phenotype has been observed. Hypomorphic variants that have been reported in the general population can be disease causing if combined in trans with a loss-of-function allele. Therapeutic strategies aimed at inducing overexpression of hypomorphic alleles might be beneficial.

publication date

  • January 2015

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC4494888

Digital Object Identifier (DOI)

  • 10.1016/j.jaci.2015.03.005

PubMed ID

  • 25917813

Additional Document Info

start page

  • 140

end page

  • 150.e7

volume

  • 136

number

  • 1