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Incomplete penetrance in inborn errors of immunity: A skeleton in the closet—The sequel

30 Jul 2025

Abstract excerpt

Primary immunodeficiencies (PIDs), more recently renamed inborn errors of immunity (IEIs), are a diverse group of over 550 genetic disorders. They cause clinically apparent immune dysregulation, leading to infections, autoinflammation, autoimmunity, and cancer. Initially, most IEIs were described as Mendelian disorders with complete penetrance, but the community has now shown that, in most IEIs, some individuals...

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PMID: 41608500
DOI: 10.70962/jhi.20250064

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