Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
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Cytotoxic granule secretion by lymphocytes and its link to immune homeostasisThe role of CD8 T lymphocytes in rickettsial infectionsCancers Related to Immunodeficiencies: Update and PerspectivesYour critical care patient may have HLH (hemophagocytic lymphohistiocytosis)[Hemophagocytic lymphohistiocytosis : A diagnostic challenge on the ICU].Acute liver failure caused by hemophagocytic lymphohistiocytosis in adults: A case report and review of the literature.Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management.Managing cytokine release syndrome associated with novel T cell-engaging therapies.fHLH: becoming a blended family.Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosisGenetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthoodToxicity management for patients receiving novel T-cell engaging therapies.Familial hemophagocytic lymphohistiocytosis may present during adulthood: clinical and genetic features of a small series.Pediatric lymphomas and histiocytic disorders of childhoodWhole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosisClinical characteristics and prognostic factors of adult hemophagocytic syndrome patients: a retrospective study of increasing awareness of a disease from a single-center in China.11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.Adult-onset central nervous system hemophagocytic lymphohistiocytosis: a case report.Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).Prognostic Factors and Outcomes of Adult-Onset Hemophagocytic Lymphohistiocytosis: A Retrospective Analysis of 34 CasesRecent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH.Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryAdult hemophagocytic lymphohistiocytosis causing multi organ dysfunction in a patient with multiple autoimmune disorders: when the immune system runs amok.Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosisWhole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2Intravascular large B-cell lymphoma associated with silicone breast implant, HLA-DRB1*11:01, and HLA-DQB1*03:01 manifesting as macrophage activation syndrome and with severe neurological symptoms: a case report.Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and miceRevised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages.Hemophagocytic syndrome in patients with acute myeloid leukemia undergoing intensive chemotherapy.The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment.Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis.Advances in understanding the pathogenesis of HLH.Updates on histiocytic disorders.Lymphoma presenting as secondary HLH: a review with a tale of two cases.
P2860
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P2860
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.
@ast
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.
@en
type
label
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.
@ast
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.
@en
prefLabel
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.
@ast
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.
@en
P2093
P2860
P50
P1433
P1476
Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH
@en
P2093
Alexandra H Filipovich
Diane Kissell
Joyce Villanueva
Judith A Johnson
Kejian Zhang
Michael B Jordan
Peter S Klein
Rebecca A Marsh
P2860
P304
P356
10.1182/BLOOD-2011-07-370148
P407
P577
2011-08-31T00:00:00Z