Nature Communications (Feb 2020)
Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
- Marcin Łyszkiewicz,
- Natalia Ziętara,
- Laura Frey,
- Ulrich Pannicke,
- Marcel Stern,
- Yanshan Liu,
- Yanxin Fan,
- Jacek Puchałka,
- Sebastian Hollizeck,
- Ido Somekh,
- Meino Rohlfs,
- Tuğba Yilmaz,
- Ekrem Ünal,
- Musa Karakukcu,
- Türkan Patiroğlu,
- Christina Kellerer,
- Ebru Karasu,
- Karl-Walter Sykora,
- Atar Lev,
- Amos Simon,
- Raz Somech,
- Joachim Roesler,
- Manfred Hoenig,
- Oliver T. Keppler,
- Klaus Schwarz,
- Christoph Klein
Affiliations
- Marcin Łyszkiewicz
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Natalia Ziętara
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Laura Frey
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Ulrich Pannicke
- Institute for Transfusion Medicine, University of Ulm
- Marcel Stern
- Max von Pettenkofer Institute, Virology, National Reference Center for Retroviruses, Faculty of Medicine, LMU München
- Yanshan Liu
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Yanxin Fan
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Jacek Puchałka
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Sebastian Hollizeck
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Ido Somekh
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Meino Rohlfs
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- Tuğba Yilmaz
- Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University
- Ekrem Ünal
- Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University
- Musa Karakukcu
- Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University
- Türkan Patiroğlu
- Department of Pediatrics, Division of Pediatric Hematology & Oncology, Erciyes University
- Christina Kellerer
- Institute for Transfusion Medicine, University of Ulm
- Ebru Karasu
- Institute for Transfusion Medicine, University of Ulm
- Karl-Walter Sykora
- Department of Pediatric Hematology/Oncology, Hannover Medical School
- Atar Lev
- Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine Tel Aviv University
- Amos Simon
- Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine Tel Aviv University
- Raz Somech
- Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine Tel Aviv University
- Joachim Roesler
- Department of Pediatrics, Carl Gustav Carus Technical University Dresden
- Manfred Hoenig
- Department of Pediatrics, University Medical Centre Ulm
- Oliver T. Keppler
- Max von Pettenkofer Institute, Virology, National Reference Center for Retroviruses, Faculty of Medicine, LMU München
- Klaus Schwarz
- Institute for Transfusion Medicine, University of Ulm
- Christoph Klein
- Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU
- DOI
- https://doi.org/10.1038/s41467-020-14809-9
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 15
Abstract
FCH domain only 1 (FCHO1) is a key molecule involved in clathrin-mediated endocytosis (CME). Here, the authors report homozygous FCHO1 mutations in individuals with variable T and B cell lymphopenia, which are associated with loss-of-function of FCHO1 and impaired formation of clathrin-coated pits in T cells.
