Author

Horst von Bernuth

Berlin-Brandenburger Centrum für Regenerative TherapienORCID 0000-0002-5812-7675Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Immunology· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:cell signaling & trafficking· 1 Research Focus:cell type annotation· 1 Approach:experimental assay· 1 Research Focus:GWAS / association mapping· 1 Research Focus:host-pathogen & immune response· 1 Approach:statistical model· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Alexandre BolzeiD· 2 shared Carlos Rodríguez‐GallegoiD· 2 shared A FotiiD· 1 shared Adem KarbuziD· 1 shared Adrian GervaisiD· 1 shared Agatha SchlüteriD· 1 shared Ahmad N. Abou TayouniD· 1 shared Alain FischeriD· 1 shared

Activity by Year

2018-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 26 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexandre BolzeORCID

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Author profile →

3 papers

Recent·Most cited

Lipid chlorination mobilizes Neutrophil Elastase to initiate NETosis

Volker Brinkmann, Christian Goosmann, Renate Krueger, Horst von Bernuth, Michael Mülleder, Kathrin Textoris‐Taube, Brenda Moreira-Walsh, David A. Ford, A Foti

The paper shows lipid chlorination by MPO-derived hypochlorous acid enables NE release from granules, initiating NETosis.

bioRxiv · Jul 11, 2026 · PreprintImmunology

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jérémy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, , Michel Vidaud

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

Genome Medicine · Apr 5, 2023Peer-reviewedGenetic & Genomic Medicine

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch, Alexander Antipenko, Matthieu Bouaziz, Paul E. Sackstein, Malik Chaker-Margot, Vincent Barlogis, Tracy Ann Briggs, Elena Colino, Aurora C. Elmore, Alain Fischer, Ferah Genel, Angela L. Hewlett, Maher Jedidi, , Jean‐Laurent Casanova

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

Proceedings of the National Academy of Sciences · Aug 2, 2018Peer-reviewedGenetics