@article{0813132f5f4b4fb9be291fa9e74ab264,
title = "Pediatric CNS-isolated hemophagocytic lymphohistiocytosis",
abstract = "ObjectiveTo highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL).MethodsRetrospective chart review.ResultsPatients 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.ConclusionsEarly and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome.Classification of evidenceThis study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.",
author = "Benson, {Leslie A.} and Hojun Li and Henderson, {Lauren A.} and Solomon, {Isaac H.} and Ariane Soldatos and Jennifer Murphy and Bibiana Bielekova and Kennedy, {Alyssa L.} and Rivkin, {Michael J.} and Davies, {Kimberly J.} and Hsu, {Amy P.} and Holland, {Steven M.} and Gahl, {William A.} and Sundel, {Robert P.} and Lehmann, {Leslie E.} and Lee, {Michelle A.} and Sanda Alexandrescu and Degar, {Barbara A.} and Duncan, {Christine N.} and Gorman, {Mark P.}",
note = "Funding Information: The authors gratefully acknowledge Biogen for providing natalizumab through compassionate use. This work was supported in part by the Intramural Research Programs of the National Human Genome Research Institute, the National Institute of Neurologic Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, and the Common Fund, Office of the Director, NIH, Bethesda, MD. Funding Information: This work was supported by Intramural Research Programs of the NHGRI, NINDS, NIAID, and the NIH Common Fund, Office of the Director, NIH, Bethesda, MD (Z1D-HG200352). Funding Information: The Article Processing Charge was funded by the authors. Publisher Copyright: {\textcopyright} 2019 American Academy of Neurology.",
year = "2019",
month = may,
day = "1",
doi = "10.1212/NXI.0000000000000560",
language = "English (US)",
volume = "6",
journal = "Neurology: Neuroimmunology and NeuroInflammation",
issn = "2332-7812",
publisher = "Lippincott Williams and Wilkins",
number = "3",
}