Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency

Immunol Invest. 2021 May;50(4):399-405. doi: 10.1080/08820139.2020.1770784. Epub 2020 Jun 1.

Abstract

LPS-responsive beige-like anchor protein (LRBA) deficiency is a monogenic primary immunodeficiency characterized by a heterogeneous spectrum of clinical manifestations associated with immune dysregulation. In this study, we reported clinical, immunologic, and genetic evaluation of two Iranian patients from unrelated families, both suffering from recurrent respiratory tract infections, failure to thrive, interstitial lung disease, autoimmune cytopenia, and hypogammaglobulinemia. Pulmonary abscess in one patient and persistent enteropathy in another were also observed. Further investigations revealed causative mutations in the exon (c.2166_2766del) and intron (c.4730-3 T > G) of the LRBA gene. These results may provide further elucidation of the clinical phenotypes and responsible genetic factors of LRBA deficiency.

Keywords: LPS-responsive beige-like anchor protein deficiency; LRBA; autoimmunity; enteropathy; immune dysregulation.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / deficiency*
  • Adaptor Proteins, Signal Transducing / genetics
  • Adult
  • B-Lymphocytes / immunology
  • Child, Preschool
  • Female
  • Humans
  • Immunoglobulin G
  • Immunoglobulins / immunology
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / immunology
  • Iran
  • Killer Cells, Natural / immunology
  • Leukocyte Count
  • Lipopolysaccharides
  • Male
  • Mutation
  • T-Lymphocytes / immunology
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • Immunoglobulin G
  • Immunoglobulins
  • Lipopolysaccharides
  • LRBA protein, human