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Studying inborn errors of immunity affecting neutrophil granulocytes DE

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The recruitment and host defence functions of neutrophil granulocytes critically depend on the tightly controlled reorganization of the actin network. In our discovery pipeline for children with inborn errors of immunity, we recently identified novel genetic variants in three actin-regulatory genes: FSCN, MIGFILIN, and ARHGEF6. The clinical phenotypes are variable, ranging from neutropenia to a hyper-inflammatory syndrome. In the present proposal we aim to identify the molecular and cellular pathophysiological mechanisms underlying these newly defined inborn errors of immunity.

Team

Publications

Neutrophils - Biology and Diversity

Maier-Begandt, D.; Alonso-Gonzalez, N.; Klotz, L.; Erpenbeck, L.; Jablonska, J.; Immler, R.; Hasenberg, A.; Mueller, T. T.; Herrero-Cervera, A.; Aranda-Pardos, I.; Flora, K.; Zarbock, A.; Brandau, S.; Schulz, C.; Soehnlein, O.; Steiger, S.; the TRR332 consortium.

2023 Nephrology Dialysis Transplantation

Human Genetic Defects in SRP19 and SRPRA Cause Severe Congenital Neutropenia with Distinctive Proteome Changes

Linder, M. I.; Mizoguchi, Y.; Hesse, S.; Csaba, G.; Tatematsu, M.; Łyszkiewicz, M.; Zietara, N.; Jeske, T.; Hastreiter, M.; Rohlfs, M.; Liu, Y.; Grabowski, P.; Ahomaa, K.; Maier-Begandt, D.; Schwestka, M.; Pazhakh, V.; Isiaku, A.; Briones Miranda, B.; Blombery, P.; Saito, M. K.; Rusha, E.; Alizadeh, Z.; Pourpak, Z.; Kobayashi, M.; Rezaei, N.; Unal, E.; Hauck, F.; Drukker, M.; Walzog, B.; Rappsilber, J.; Zimmer, R.; Lieschke, G. J.; Klein, C.

2023 Blood