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Article

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.

Human genetics - 1 Jun 2020

Gruber Conor, Bogunovic Dusan

Abstract excerpt

Primary immunodeficiencies (PIDs) comprise a diverse group of over 400 genetic disorders that result in clinically apparent immune dysfunction. Although PIDs are classically considered as Mendelian disorders with complete penetrance, we now understand that absent or partial clinical disease is often noted in individuals harboring disease-causing genotypes. Despite the frequency of incomplete penetrance in PID, no...

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Share to Epigenesis, Genetic
Share to Gene-Environment Interaction
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Immunodeficiency and Autoimmune Disorders

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Source

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Identifiers

PMID: 32067110
DOI: 10.1007/s00439-020-02131-9
PMCID: PMC7275875

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