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Somatic mosaicism in genetic errors of immunity

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Genetic mosaicism in somatic cells can result in the presence of pathogenic variants in a subset of immune cells inflicting genetic errors of immunity (GEI), usually phenocopying germline inborn errors of immunity (IEI). Over the past twenty years vital progress has been made within the identification of those issues in sufferers, together with discovery of recent illnesses. Analysis of disease-causing somatic mosaicism supplies a goal for remedy and monitoring of sufferers and has implications for genetic counseling.

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