J
Jana Diestelhorst
Researcher at Hannover Medical School
Publications - 25
Citations - 2836
Jana Diestelhorst is an academic researcher from Hannover Medical School. The author has contributed to research in topics: Autoimmune hepatitis & Congenital Neutropenia. The author has an hindex of 13, co-authored 25 publications receiving 2538 citations. Previous affiliations of Jana Diestelhorst include Boston Children's Hospital & Ludwig Maximilian University of Munich.
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Journal ArticleDOI
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
Erik-Oliver Glocker,Daniel Kotlarz,Kaan Boztug,E. Michael Gertz,Alejandro A. Schäffer,Fatih Noyan,Mario Perro,Jana Diestelhorst,Anna Allroth,Dhaarini Murugan,Nadine Hätscher,Dietmar Pfeifer,Karl-Walter Sykora,Martin Sauer,Hans Kreipe,Martin Lacher,Rainer Nustede,Cristina Woellner,Ulrich Baumann,Ulrich Salzer,Sibylle Koletzko,Neil Shah,Anthony W. Segal,Axel Sauerbrey,Stephan Buderus,Scott B. Snapper,Bodo Grimbacher,Christoph Klein +27 more
TL;DR: Mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine, and resulted in disease remission in one patient.
Journal ArticleDOI
Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy.
Daniel Kotlarz,Daniel Kotlarz,Rita Beier,Dhaarini Murugan,Dhaarini Murugan,Jana Diestelhorst,Jana Diestelhorst,Ole Jensen,Ole Jensen,Kaan Boztug,Dietmar Pfeifer,Hans Kreipe,Eva Doreen Pfister,Ulrich Baumann,Jacek Puchałka,Jens Bohne,Odul Egritas,Buket Dalgic,Kaija-Leena Kolho,Axel Sauerbrey,Stephan Buderus,Tayfun Güngör,Axel Enninger,Yu Kar Ling Koda,Graziella Guariso,Batia Weiss,Selim Corbacioglu,Piotr Socha,Nuray Uslu,Ayse Metin,Ghassan Wahbeh,Khalid Husain,Dina Ramadan,Waleed Al Herz,Bodo Grimbacher,Martin Sauer,Karl Walter Sykora,Sibylle Koletzko,Christoph Klein,Christoph Klein +39 more
TL;DR: It is indicated that infantile IBD patients with perianal disease should be screened for IL-10 and IL-11R deficiency and that allogeneic HSCT can induce remission in those with IL- 10R deficiency.
Journal ArticleDOI
A Syndrome with Congenital Neutropenia and Mutations in G6PC3
Kaan Boztug,Giridharan Appaswamy,Angel Ashikov,Alejandro A. Schäffer,Ulrich Salzer,Jana Diestelhorst,Manuela Germeshausen,Gudrun Brandes,Jacqueline Lee-Gossler,Fatih Noyan,Anna-Katherina Gatzke,Milen Minkov,Johann Greil,Christian P. Kratz,Theoni Petropoulou,Isabelle Pellier,Christine Bellanné-Chantelot,Nima Rezaei,Kirsten Mönkemöller,Noha Irani-Hakimeh,Hans Bakker,Rita Gerardy-Schahn,Cornelia Zeidler,Bodo Grimbacher,Karl Welte,Christoph Klein +25 more
TL;DR: Defective function of glucose-6-phosphatase, catalytic subunit 3, underlies a severe congenital neutropenia syndrome associated with cardiac and urogenital malformations.
Journal ArticleDOI
The phenotype of human STK4 deficiency
Hengameh Abdollahpour,Giridharan Appaswamy,Daniel Kotlarz,Daniel Kotlarz,Jana Diestelhorst,Jana Diestelhorst,Rita Beier,Alejandro A. Schäffer,E. Michael Gertz,Axel Schambach,Hans Kreipe,Dietmar Pfeifer,Karin R. Engelhardt,Nima Rezaei,Bodo Grimbacher,Sabine Lohrmann,Roya Sherkat,Christoph Klein,Christoph Klein +18 more
TL;DR: A novel clinical phenotype associating T- and B-cell lymphopenia, intermittent neutropenia, and atrial septal defects in 3 members of a consanguineous kindred is described.
Journal ArticleDOI
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
Daniel Kotlarz,Natalia Ziętara,Gulbu Uzel,Thomas Weidemann,Christian Braun,Jana Diestelhorst,Peter Krawitz,Peter Krawitz,Peter N. Robinson,Peter N. Robinson,Jochen Hecht,Jochen Hecht,Jacek Puchałka,E. Michael Gertz,Alejandro A. Schäffer,Monica G. Lawrence,Lela Kardava,Dietmar Pfeifer,Ulrich Baumann,Eva-Doreen Pfister,Eric P. Hanson,Axel Schambach,Roland Jacobs,Hans Kreipe,Susan Moir,Joshua D. Milner,Petra Schwille,Stefan Mundlos,Stefan Mundlos,Christoph Klein +29 more
TL;DR: A primary immunodeficiency syndrome caused by loss-of-function mutations in the IL-21 receptor exhibits impaired B, T, and NK cell function.