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Article

Monogenic disorders of immunity: Common variants are not so rare.

Cell genomics - 14 Jan 2026

Béziat Vivien, Casanova Jean-Laurent

Abstract excerpt

According to the current paradigm, human monogenic disorders underlying immunological phenotypes are due to rare (frequency <1%) as opposed to common (>1%) alleles. However, as reviewed here, an increasing number of studies have reported monogenic disorders of immunity, recessive or dominant, involving alleles that are currently common in specific small or large populations. Examples range from IFNAR1 and IFNAR2...

Topics

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Alleles
Genetic Predisposition to Disease
Genetic Variation
Immune System Diseases

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 41512860
DOI: 10.1016/j.xgen.2025.101129
PMCID: PMC12926205

Genes

IFNAR1
IFNAR2
PTCRA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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