Fatal familial hemophagocytic lymphohistiocytosis with perforin gene (PRF1) mutation and EBV-associated T-cell lymphoproliferative disorder of the thyroid
Autops. Case Rep
; 9(3): e2019101, July-Sept. 2019. graf, tab, ilus
Artículo
en Inglés
| LILACS
| ID: biblio-1016808
Biblioteca responsable:
BR26.7
ABSTRACT
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare fatal autosomal recessive disorder of immune dysregulation. The disease presents most commonly in the first year of life; however, symptomatic presentation throughout childhood and adulthood has also been identified. Biallelic mutation in the perforin gene is present in 20%50% of all cases of FHL. Secondary hemophagocytic lymphohistiocytosis (HLH) in association with hematological malignancies is known; however, whether mutations in HLH-associated genes can be associated with FHL and hematolymphoid neoplasms is not well documented. Also, EpsteinBarr-virus- (EBV) positive systemic T-cell lymphoproliferative disease (SE-LPD) in the setting of FHL is not clearly understood. Here, we present the case of a young boy who presented with typical features of childhood FHL harboring the perforin gene (PRF1) mutation, and had SE-LPD diagnosed on autopsy, along with evidence of recent EBV infection. The patient expired due to progressive disease. Five siblings died in the second or third decade of life with undiagnosed disease. Genetic counseling was provided to the two surviving siblings and parents, but they could not afford genetic testing. One surviving sibling has intermittent fever and is on close follow-up for possible bone marrow transplantation.
Texto completo:
Disponible
Colección:
Bases de datos internacionales
Base de datos:
LILACS
Asunto principal:
Antígenos Nucleares del Virus de Epstein-Barr
/
Linfohistiocitosis Hemofagocítica
Tipo de estudio:
Factores de riesgo
Límite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Autops. Case Rep
Asunto de la revista:
Anatomia
/
Patologia Cl¡nica
/
Patologia Legal
Año:
2019
Tipo del documento:
Artículo
País de afiliación:
India
Institución/País de afiliación:
All India Institute of Medical Sciences/IN