A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T H 17 immunity

J Allergy Clin Immunol. 2018 Dec;142(6):1968-1971. doi: 10.1016/j.jaci.2018.08.026. Epub 2018 Sep 5.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adaptor Proteins, Signal Transducing / immunology
  • CTLA-4 Antigen / immunology*
  • Child, Preschool
  • Female
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Mutation
  • T-Lymphocytes, Regulatory / immunology*
  • Th17 Cells / immunology*

Substances

  • Adaptor Proteins, Signal Transducing
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • LRBA protein, human