Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane

Minerva Pediatr. 2020 Oct;72(5):393-407. doi: 10.23736/S0026-4946.20.06000-4. Epub 2020 Sep 22.

Abstract

Inborn errors of immunity are diseases of the immune system resulting from mutations that alter the expression of encoded proteins or molecules. Total updated number of these disorders is currently 406, with 430 different identified gene defects involved. Studies of the underlying mechanisms have contributed in better understanding the pathophysiology of the diseases, but also the complexity of the biology of innate and adaptive immune system and its interaction with microbes. In this review we present and briefly discuss Inborn Errors of Immunity caused by defects in genes encoding for receptors and protein of cellular membrane, including cytokine receptors, T cell antigen receptor (TCR) complex, cellular surface receptors or receptors signaling causing predominantly antibody deficiencies, co-stimulatory receptors and others. These alterations impact many biological processes of immune-system cells, including development, proliferation, activation and down-regulation of the immunological response, and result in a variety of diseases that present with distinct clinical features or with overlapping signs and symptoms.

Publication types

  • Review

MeSH terms

  • Costimulatory and Inhibitory T-Cell Receptors / genetics
  • Costimulatory and Inhibitory T-Cell Receptors / immunology
  • Humans
  • Immune System Diseases / genetics*
  • Immune System Diseases / immunology
  • Immunity, Cellular / genetics
  • Immunologic Deficiency Syndromes / genetics
  • Immunologic Deficiency Syndromes / immunology
  • Membrane Proteins / genetics*
  • Mutation*
  • Primary Immunodeficiency Diseases / genetics
  • Primary Immunodeficiency Diseases / immunology
  • Receptors, Antigen, T-Cell / genetics
  • Receptors, Cell Surface / genetics
  • Receptors, Cytokine / genetics

Substances

  • Costimulatory and Inhibitory T-Cell Receptors
  • Membrane Proteins
  • Receptors, Antigen, T-Cell
  • Receptors, Cell Surface
  • Receptors, Cytokine