Article
Combined Heterozygous Genetic Variations in Complement C2 and C8B: An Explanation for Multidimensional Immune Imbalance?
Journal of innate immunity - 1 Jan 2023
Mannes Marco, Halbgebauer Rebecca, Wohlgemuth Lisa, Messerer David Alexander Christian, Savukoski Susa, Schultze Anke, Berger Bettina, Knapp Christiane Leonie, Schmidt Christoph Q, Fürst Daniel, Hillmer Morten, Siebert Reiner, Eriksson Oskar, Persson Barbro, Nilsson Bo, Nilsson Ekdahl Kristina, Huber-Lang Markus
Abstract excerpt
The complement system plays a crucial role in host defense, homeostasis, and tissue regeneration and bridges the innate and the adaptive immune systems. Although the genetic variants in complement C2 (c.839_849+17del; p.(Met280Asnfs*5)) and C8B (c.1625C>T; p.(Thr542Ile)) are known individually, here, we report on a patient carrying their combination in a heterozygous form. The patient presented with a reduced...
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