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. 2020 Nov;31 Suppl 26(Suppl 26):57-59.
doi: 10.1111/pai.13365.

Updates on new monogenic inborn errors of immunity

Riccardo Castagnoli  1   2   3   4 , Luigi Daniele Notarangelo  1
Affiliations

Updates on new monogenic inborn errors of immunity

Riccardo Castagnoli et al. Pediatr Allergy Immunol. 2020 Nov.

Abstract

Inborn errors of immunity (IEI), also referred to as primary immunodeficiencies (PID), are disorders that, for the most part, result from mutations in genes involved in immune host defense and immune regulation. Thanks to the increased availability of high-throughput DNA sequencing and the improvement in genomic data interpretation, the number of newly identified genes associated with IEI has exponentially increased over the last decade. We reviewed four recently described monogenic IEI and discussed the clinical and immunologic features of these new conditions.

Keywords: inborn errors of immunity; new monogenic diseases of immunity; primary immunodeficiency disorders.

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