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Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation
Author(s) -
Hussein Ayad Ahmed,
Hamadah Tuka,
Qandeel Monther,
Sughayer Maher,
Amarin Rula,
Mansour Asem,
Chiang Samuel C.,
AlZaben Abdulhadi,
Meeths Marie,
Bryceson Yenan T.
Publication year - 2014
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25166
Subject(s) - missense mutation , medicine , fulminant , hematopoietic stem cell transplantation , hemophagocytic lymphohistiocytosis , headaches , stem cell , transplantation , pediatrics , immunology , mutation , disease , surgery , genetics , biology , gene
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. Pediatr Blood Cancer 2014;61:2313–2315. © 2014 Wiley Periodicals, Inc.