<i>SLC29A3</i> Pathogenic Variants Resulting in Dural Based Fibroinflammatory Mass Lesions and H Syndrome Treated With Cobimetinib
<i>SLC29A3</i> variant may cause fibroinflammatory lesions involving the dura resembling the clinical spectrum of Rosai-Dorfman disease. Patients with <i>SLC29A3</i> disease and neurologic signs or symptoms should undergo screening MRI for CNS involvement. MEK inhibition represents a novel treatment for this disorder.
Authors
- Caroline Davidge‐Pitts (ORCID: https://orcid.org/0000-0002-9393-7745)
- Jithma P. Abeykoon (ORCID: https://orcid.org/0000-0003-3939-6252)
- Narayan Kissoon (ORCID: https://orcid.org/0000-0002-6686-8537)
- Kimberly Schoonover (ORCID: https://orcid.org/0000-0001-9084-9259)
- Ronald S. Go (ORCID: https://orcid.org/0000-0002-8284-3495)
- Gesina F. Keating (ORCID: https://orcid.org/0000-0003-1118-3343)
- José C. Villasboas (ORCID: https://orcid.org/0000-0002-2907-0809)
- Pearse Morris (ORCID: https://orcid.org/0000-0002-9013-5624)
- W. Oliver Tobin (ORCID: https://orcid.org/0000-0002-8141-2394)
- Hasina Maredia (ORCID: https://orcid.org/0000-0003-0810-937X)
- Sindhuja Sominidi‐Damodaran (ORCID: https://orcid.org/0000-0003-4019-4834)
- Karen L. Rech (ORCID: https://orcid.org/0000-0001-6770-2339)
- Samantha A. Banks (ORCID: https://orcid.org/0000-0002-5856-1367)
- Allen J. Aksamit (ORCID: https://orcid.org/0009-0008-0111-5594)
- Queenie K.‐G. Tan (ORCID: https://orcid.org/0009-0001-3353-5015)
- Larissa N. Veres
Institutions
- Norwegian Womens Public Health Association (NO)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2024-10-14
- DOI
- https://doi.org/10.1212/nxg.0000000000200197
- Citations
- 1
- Primary Topic
- IgG4-Related and Inflammatory Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- National Institutes of Health