Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation. Pediatr Blood Cancer 2014 Dec;61(12):2313-5
Date
08/12/2014Pubmed ID
25110876DOI
10.1002/pbc.25166Scopus ID
2-s2.0-84911467780 (requires institutional sign-in at Scopus site) 4 CitationsAbstract
Individuals with biallelic truncating PRF1 mutations typically present with fulminant early-onset familial hemophagocytic lymphohistiocytosis (FHL). We report a 19-year-old male with a 5-year history of recurrent fever and headaches progressing to refractory seizures. Brain imaging revealed multiple ring enhancing lesions. Laboratory investigations demonstrated that the patient displayed defective lymphocyte cytotoxicity and carried a homozygous missense PRF1 mutation, c.394G > A (p.Gly132Arg). The patient was successfully treated with chemo-immunotherapy followed by matched related allogeneic hematopoietic stem cell transplantation (HSCT). Our findings demonstrate that prompt HSCT of late-onset FHL with primarily neurological manifestation can reverse central nervous system symptoms and improve long-term outcome.
Author List
Hussein AA, Hamadah T, Qandeel M, Sughayer M, Amarin R, Mansour A, Chiang SC, Al-Zaben A, Meeths M, Bryceson YTAuthor
Monther Qandeel MBChB Assistant Professor in the Radiology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdolescentAntibodies, Monoclonal, Murine-Derived
Antineoplastic Agents
Brain Diseases
Combined Modality Therapy
Female
Hematopoietic Stem Cell Transplantation
Humans
Lymphohistiocytosis, Hemophagocytic
Male
Mutation
Perforin
Prognosis
Rituximab
