Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

Several molecules (LYST, AP3, RAB27A, STX11, STXBP2, MUNC13-4, and PRF1) have been associated with the function of cytotoxic lymphocytes. Biallelic defects in all of these molecules have been associated with familial hemophagocytic lymphohistiocytosis (FHL). We retrospectively reviewed the genetic a...

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Autores principales: Zhang, Kejian, Chandrakasan, Shanmuganathan, Chapman, Heather, Valencia, C. Alexander, Husami, Ammar, Kissell, Diane, Johnson, Judith A., Filipovich, Alexandra H.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society of Hematology 2014
Materias:
Phagocytes, Granulocytes, and Myelopoiesis
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4141517/
https://ncbi.nlm.nih.gov/pubmed/24916509
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2014-05-573105
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