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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

Jarmila Stremenova Spegarova1, Praisoody Sinnappurajar2, Dalila Al Julandani2

  • 1Translational and Clinical Research Institute, Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom.

The Journal of Clinical Investigation
|May 16, 2024
PubMed
Abstract

No abstract available in PubMed .

Keywords:
AutoimmunityImmunologyLupusMonogenic diseasesStem cell transplantation

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Teratogenicity01:07

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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...