Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare primary immunodeficiency disorder characterized by defects in cell-mediated cytotoxicity that results in fever, hepatosplenomegaly, and cytopenias. Familial HLH is well recognized in children but rarely diagnosed in adults. We conducted a r...

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Detalhes bibliográficos
Main Authors: Zhang, Kejian, Jordan, Michael B., Marsh, Rebecca A., Johnson, Judith A., Kissell, Diane, Meller, Jarek, Villanueva, Joyce, Risma, Kimberly A., Wei, Qian, Klein, Peter S., Filipovich, Alexandra H.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2011
Assuntos:
Clinical Trials and Observations
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3228496/
https://ncbi.nlm.nih.gov/pubmed/21881043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2011-07-370148
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