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REVIEW  NOVEL INSIGHTS INTO PEDIATRIC ALLERGY AND IMMUNOLOGY Freefree

Minerva Pediatrica 2020 October;72(5):393-407

DOI: 10.23736/S0026-4946.20.06000-4

Copyright © 2020 EDIZIONI MINERVA MEDICA

language: English

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

Enrica CALZONI 1 , Riccardo CASTAGNOLI 2, 3, Silvia C. GILIANI 1

1 Department of Molecular and Translational Medicine, A. Nocivelli Institute for Molecular Medicine, University of Brescia, Brescia, Italy; 2 Pediatric Clinic, IRCCS San Matteo Polyclinic Foundation, Pavia, Italy; 3 Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy



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.


KEY WORDS: Primary immunodeficiency diseases; Receptors, cell surface; Severe combined immunodeficiency; Mutation

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