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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Veröffentlicht in:BMC Med Genet
Hauptverfasser: Bordbar, Mohammad Reza, Modarresi, Farzaneh, Farazi Fard, Mohammad Ali, Dastsooz, Hassan, Shakib Azad, Nader, Faghihi, Mohammad Ali
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2017
Schlagworte:
Case Report
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5415817/
https://ncbi.nlm.nih.gov/pubmed/28468610
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0404-9
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