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

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

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

http://www.wikidata.org/entity/Q35585941

about

Cytotoxic granule secretion by lymphocytes and its link to immune homeostasis The role of CD8 T lymphocytes in rickettsial infections Cancers Related to Immunodeficiencies: Update and Perspectives Your 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 lymphohistiocytosis Genetic features of late onset primary hemophagocytic lymphohistiocytosis in adolescence or adulthood Toxicity 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 childhood Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis Clinical 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 Cases Recent 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 registry Adult 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 lymphohistiocytosis Whole-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 2 Intravascular 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 mice Revised 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 lymphohistiocytosis Familial 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.

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P2860

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

http://www.wikidata.org/entity/Q35585941

description

2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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2011年论文

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name

Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.

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Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.

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type

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Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.

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Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.

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Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.

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Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH.

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Hypomorphic mutations in PRF1, ...... with adult-onset familial HLH

@en

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Alexandra H Filipovich

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Diane Kissell

http://www.w3.org/2001/XMLSchema#string

Joyce Villanueva

http://www.w3.org/2001/XMLSchema#string

Judith A Johnson

http://www.w3.org/2001/XMLSchema#string

Kejian Zhang

http://www.w3.org/2001/XMLSchema#string

Michael B Jordan

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Peter S Klein

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Rebecca A Marsh

http://www.w3.org/2001/XMLSchema#string

P2860

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

SIFT: Predicting amino acid changes that affect protein function

Human non-synonymous SNPs: server and survey

Amino acid difference formula to help explain protein evolution

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

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