A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is...

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Detalles Bibliográficos
Autores principales: Bordbar, Mohammad Reza, Modarresi, Farzaneh, Farazi Fard, Mohammad Ali, Dastsooz, Hassan, Shakib Azad, Nader, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5415817/
https://www.ncbi.nlm.nih.gov/pubmed/28468610
http://dx.doi.org/10.1186/s12881-017-0404-9

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