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Jana Diestelhorst | doi.page

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Jana Diestelhorst

Medizinische Hochschule Hannover(DE)Johannes Wesling Klinikum Minden(DE)ERN RARE-LIVER(DE)Ruhr University Bochum(DE)

Publications by Year

Research Areas

Immunodeficiency and Autoimmune Disorders, Blood disorders and treatments, Immune Cell Function and Interaction, Liver Diseases and Immunity, Liver Disease Diagnosis and Treatment

Most-Cited Works

→ Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor(2009)1,408 cited
→ Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy(2012)464 cited
→ A Syndrome with Congenital Neutropenia and Mutations inG6PC3(2008)348 cited
→ The phenotype of human STK4 deficiency(2012)322 cited
→ Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome(2013)214 cited
→ JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia(2014)141 cited

→ The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2(2013)

84 cited

→ Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation(2014)74 cited

→ 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)46 cited

→ Multiple independent second‐site mutations in two siblings with somatic mosaicism for Wiskott–Aldrich syndrome(2008)42 cited