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Updated: Sep 12, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[A circuitous route to the diagnosis of a very rare disease]
C Glück1, G Waertel2, L Schminke3
1Interdisziplinäre Medizinische Intensivtherapie, Uniklinikum Freiburg, Freiburg, Deutschland.
Abstract:
This case of a patient with Erdheim-Chester disease highlights the problems in diagnosing this very rare, largely unknown, but highly inflammatory non-Langerhans histiocytosis. This disease shows some characteristic clinical and molecular features including the BRAF V600E mutation, which was also demonstrated in this case in a perirenal tissue biopsy. The patient's condition improved under treatment with peginterferon alfa-2a and anakinra. However, remission for what is now 3 years was only achieved with the combination of anakinra and the BRAF inhibitor dabrafenib.
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