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Article

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

Minerva pediatrica - 1 Oct 2020

Calzoni Enrica, Castagnoli Riccardo, Giliani Silvia C

Abstract excerpt

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...

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Share to Immune System Diseases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Primary Immunodeficiency Diseases

Share to Receptors, Antigen, T-Cell

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Source

Identifiers

PMID: 32960006
DOI: 10.23736/S0026-4946.20.06000-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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