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Jana Diestelhorst

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor
2009 · Erik-Oliver Glocker, Daniel Kotlarz, et al. · New England Journal of Medicine · 1,452
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Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy
2012 · Daniel Kotlarz, Rita Beier, et al. · Gastroenterology · 479
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A Syndrome with Congenital Neutropenia and Mutations in G6PC3
2008 · Kaan Boztug, Giridharan Appaswamy, et al. · New England Journal of Medicine · 356
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The phenotype of human STK4 deficiency
2012 · Hengameh Abdollahpour, Giridharan Appaswamy, et al. · Blood · 332
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome
2013 · Daniel Kotlarz, Natalia Ziętara, et al. · The Journal of Experimental Medicine · 217
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JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia
2014 · Kaan Boztug, Päivi M Järvinen, et al. · Nature Genetics · 142
The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
2013 · Birthe Jessen, Sebastian F. N. Bode, et al. · Blood · 85
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Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
2014 · Dhaarini Murugan, Michael H. Albert, et al. · Journal of Clinical Immunology · 72
Pediatric autoimmune hepatitis shows a disproportionate decline of regulatory T cells in the liver and of IL-2 in the blood of patients undergoing therapy
2017 · Jana Diestelhorst, Norman Junge, et al. · PLoS ONE · 48
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Quantification of polyreactive immunoglobulin G facilitates the diagnosis of autoimmune hepatitis
2021 · Richard Taubert, Bastian Engel, et al. · Hepatology · 47
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Multiple independent second‐site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome
2008 · K Boztug, M Germeshausen, et al. · Clinical Genetics · 41
EBV-Specific T-Cell Immunity in Pediatric Solid Organ Graft Recipients With Posttransplantation Lymphoproliferative Disease
2012 · Nadine Wilsdorf, Britta Eiz-Vesper, et al. · Transplantation · 33
Increased seroprevalence of HAV and parvovirus B19 in children and of HEV in adults at diagnosis of autoimmune hepatitis
2018 · Richard Taubert, Jana Diestelhorst, et al. · Scientific Reports · 29
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HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI
2010 · Kaan Boztug, Xiao‐Qi Ding, et al. · American Journal of Medical Genetics Part A · 28
Baseline IL-2 and the AIH score can predict the response to standard therapy in paediatric autoimmune hepatitis
2018 · Jana Diestelhorst, Norman Junge, et al. · Scientific Reports · 21
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Limited niche availability suppresses murine intrathymic dendritic-cell development from noncommitted progenitors
2014 · Marcin Łyszkiewicz, Natalia Ziętara, et al. · Blood · 19
Detection of polyreactive immunoglobulin G facilitates diagnosis in children with autoimmune hepatitis
2024 · Bastian Engel, Jana Diestelhorst, et al. · Hepatology International · 14
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Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.
2009 · S Mamishi, S A Esfahani, et al. · PubMed · 12
Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome.
2007 · Kaan Boztug, Ricardo A. Dewey, et al. · Blood · 10
LAMTOR2 (p14) Controls B Cell Differentiation by Orchestrating Endosomal BCR Trafficking
2019 · Marcin Łyszkiewicz, Daniel Kotlarz, et al. · Frontiers in Immunology · 8
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Potential viral triggers for pediatric and adult autoimmune hepatitis
2017 · R. Taubert, J. Diestelhorst, et al. · Journal of Hepatology · 3
Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis
2013 · Kaan Boztug, Päivi M Järvinen, et al. · Blood · 3
Successful Allogeneic Hematopoietic Stem Cell Transplantation for Severe Inflammatory Bowel Disease – IL10 Receptor Deficiency May Serve as a Novel Therapeutic Paradigm
2010 · Rita Beier, Daniel Kotlarz, et al. · Blood · 3
Early-onset inflammatory bowel disease caused by mutant IL10 receptor
2010 · E O Glocker, D Kotlarz, et al. · Journal of Translational Medicine · 3
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A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3
2008 · Kaan Boztug, Giridharan Appaswamy, et al. · Blood · 3
Works count: 32
Citation count: 3,463
H-index: 16
I10-index: 19
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