Combined Heterozygous Genetic Variations in Complement C2 and C8B: An Explanation for Multidimensional Immune Imbalance?

• Main Authors: Marco Mannes (Author), Rebecca Halbgebauer (Author), Lisa Wohlgemuth (Author), David Alexander Christian Messerer (Author), Susa Savukoski (Author), Anke Schultze (Author), Bettina Berger (Author), Christiane Leonie Knapp (Author), Christoph Q. Schmidt (Author), Daniel Fürst (Author), Morten Hillmer (Author), Reiner Siebert (Author), Oskar Eriksson (Author), Barbro Persson (Author), Bo Nilsson (Author), Kristina Nilsson Ekdahl (Author), Markus Huber-Lang (Author)
• Format: Book
• Published: Karger Publishers, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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, h...