Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives

J Aluri, MA Cooper - Seminars in immunology, 2023 - Elsevier
Inborn errors of immunity (IEI) are a diverse group of monogenic disorders of the immune
system due to germline variants in genes important for the immune response. Over the past …

Severity of effect considerations regarding the use of mutation as a toxicological endpoint for risk assessment: A report from the 8th International Workshop on …

BL Parsons, MA Beal, KL Dearfield… - Environmental and …, 2024 - Wiley Online Library
Exposure levels without appreciable human health risk may be determined by dividing a
point of departure on a dose–response curve (eg, benchmark dose) by a composite …

Supratentorial multifocal gliomas associated with Ollier disease harboring IDH1 R132H mutation: A case report

H Ikeda, S Yamaguchi, Y Ishi, K Wakabayashi… - …, 2023 - Wiley Online Library
Somatic mosaicism of isocitrate dehydrogenase 1/2 (IDH1/2) mutation is a cause of Ollier
disease (OD), characterized by multiple enchondromatosis. A 35‐year‐old woman who was …