Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missensePRF1mutation
| Autor: | Abdulhadi Al-Zaben, Marie Meeths, Yenan T. Bryceson, Tuka Hamadah, Rula Amarin, Maher A. Sughayer, Monther Qandeel, Asem Mansour, Samuel C. C. Chiang, Ayad Ahmed Hussein |
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| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Hemophagocytic lymphohistiocytosis Mutation business.industry medicine.medical_treatment Fulminant Hematology Hematopoietic stem cell transplantation Familial Hemophagocytic Lymphohistiocytosis medicine.disease medicine.disease_cause Oncology Pediatrics Perinatology and Child Health Immunology medicine Primary immunodeficiency Missense mutation Headaches medicine.symptom business |
| Zdroj: | Pediatric Blood & Cancer. 61:2313-2315 |
| ISSN: | 1545-5009 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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