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Our latest report describes the largest series of patients with inherited thrombocytopenia due to CYCS variants. This disorder is characterized by mild-to-moderate thrombocytopenia, normal platelet size, and function, low risk of bleeding, and no additional clinical phenotypes.
Kabuki syndrome can result in a severe Primary Immune Regulatory Disorder, especially in patients undergoing early thymectomy. Immune disregulation is associated with elevated DNT cells and can respond to Mycophenolate.
Read our latest report in JoCI: https://t.co/AnDKPGd02S
Severe Herpes Simplex encephalitis can be a presenting feature of... IPEX!!! Check out our report out now in JoCI https://t.co/1PZqHyXNqO @lindarossini1
Our novel work on the functional characterization of a novel variant in MECOM is currently online.
Thank you to all the contributors!
British Journal of Haematology | Wiley Online Library https://t.co/yu74GCacxs
@AndreMansoor Hi,
I would ask the hereditary metabolic disorders specialist to have a look at this patient. There are several ultra rare disorders that can present also in adults.
Hope this helps
Antonio
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