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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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| 發表在: | BMC Med Genet |
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| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2017
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| 主題: | |
| 在線閱讀: | 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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