Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells

J Allergy Clin Immunol. 2014 Oct;134(4):983-5.e1. doi: 10.1016/j.jaci.2014.04.037. Epub 2014 Jun 27.
No abstract available

Publication types

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

MeSH terms

  • Agammaglobulinemia / complications
  • Agammaglobulinemia / diagnosis
  • Agammaglobulinemia / genetics*
  • B-Lymphocytes / immunology*
  • Child
  • Child, Preschool
  • DNA / analysis
  • Disease Progression
  • Early Diagnosis
  • Fatal Outcome
  • Genetic Testing
  • Genome / genetics
  • Homeodomain Proteins / genetics*
  • Homozygote
  • Humans
  • Infant
  • Killer Cells, Natural / immunology*
  • Lymphocyte Depletion
  • Male
  • Mutation / genetics
  • Opportunistic Infections / etiology
  • Opportunistic Infections / immunology
  • Pedigree
  • Polymorphism, Single Nucleotide
  • T-Lymphocytes / immunology*

Substances

  • Homeodomain Proteins
  • RAG-1 protein
  • DNA