To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL).
Patients with CNS-FHL are characterized by chronic inflammation restricted to the CNS that is not attributable to any previously described neuroinflammatory etiology and have germline mutations in known FHL-associated genes with no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well tolerated and effective in achieving or maintaining disease remission in patients with CNS-FHL.
Dr. Bielekova is co-inventor on several NIH patents related to daclizumab and as such has received patent royalty payments from NIH.
Several clinical trials on which Dr. Bielekova is a PI are supported by Collaborative Research Agreements between NINDS and commercial entities. Protocol 10-N-0125 was partially supported by Biogen/Abbvie and protocols 09-N-0197 and 13-N-0088 were partially supported by Santhera Pharmaceuticals.
The study was supported by the Intramural Research Program of the NIH/NIAID. Dr. Bielekova is employee of Intramural Research program of the NIH/NIAID.
Dr. Bielekova is co-inventor on several NIH patents related to daclizumab and as such has received patent royalty payments from NIH.
I was paid $6000 by Medical Education Resources to teach general practitioners about pediatric rheumatology
I received $500 for speaking about Rheumatologic complications in IBD at the 2018 BostonIBD conference. I received $2000 to speak about CRMO and Adult and Pediatric Vasculitis
Pediatric Rheumatology Section Editor for UpToDate online medical journal, from 2005-present.
Topics in Pediatric Rheumatology for UpToDate from 2005- present including Kawasaki disease Epidemiology and Diagnosis, Kawasaki disease Treatment, Henloch Schoenlein Purpura.
Consultant to American College of Rheumatology Vasculitis Committee on Pediatric Vasculitis Consultant to Growthpoint on pathogenesis and potential therapeutic targets in vasculitis.
Member of Lyme Guidelines Committee co-representing American College of Rheumatology
SimulConsult support for work on pediatric rheumatology contact in diagnostic decision software.
NIH (SBIR) consultant on project to adapt diagnostic decision software for pediatric rheumatology cases. Grant R44AR063518-02A1, PI: Segal, MM, 2018-2020
Commercial entity: Pfizer scientific advisory board Commercial entity: bluebird bio scientific advisory board
1. Evaluation of the hematopoietic cell transplantation donor, Online Publication (Uptodate.com) last updated June 27, 2018
1. Consultant: bluebird bio 2. Consultant: Magenta Therapeutics 3. Consultant: AbGenomics
1. Peer View Institute: review document preparation (topic veno-occlusive disease) 2. Open CME: course content preparation (topic veno- occlusive disease)
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