Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium

J Allergy Clin Immunol. 2017 Feb;139(2):690-692.e3. doi: 10.1016/j.jaci.2016.07.027. Epub 2016 Sep 5.

Abstract

RAG deficiency is emerging as one of the leading causes of SCID and leaky SCID with an estimated incidence of 1:336,000. Hypomorphic mutations in the RAG genes can also lead to highly variable delayed-onset combined immunodeficiency diseases. We estimate the population genetic frequency of these hypomorphic diseases as up to 1:181,000, suggesting that RAG1/2 mutations are likely to contribute to undiagnosed cases of combined immunodeficiencies.

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / immunology
  • Databases, Nucleic Acid*
  • Exome*
  • Female
  • Homeodomain Proteins / genetics*
  • Homeodomain Proteins / immunology
  • Humans
  • Incidence
  • Infant
  • Mutation*
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / immunology
  • Severe Combined Immunodeficiency / epidemiology
  • Severe Combined Immunodeficiency / genetics*
  • Severe Combined Immunodeficiency / immunology

Substances

  • DNA-Binding Proteins
  • Homeodomain Proteins
  • Nuclear Proteins
  • RAG2 protein, human
  • RAG-1 protein