Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
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Visualization of cytolytic T cell differentiation and granule exocytosis with T cells from mice expressing active fluorescent granzyme BCancers Related to Immunodeficiencies: Update and PerspectivesMolecular study of the perforin gene in familial hematological malignancies.Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Canine hemophagocytic histiocytic sarcoma: a proliferative disorder of CD11d+ macrophages.Hemophagocytic Syndrome and Critical Illness: New Insights into Diagnosis and Management.Murine CD4+ T cell responses are inhibited by cytotoxic T cell-mediated killing of dendritic cells and are restored by antigen transfer.Perforin-mediated target-cell death and immune homeostasis.Perforin: structure, function, and role in human immunopathology.Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan.Modern management of children with haemophagocytic lymphohistiocytosis.Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient micePerforin and lymphohistiocytic proliferative disorders.Addressing the mysteries of perforin function.The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene.Reactive hemophagocytic syndrome complicating the treatment of inflammatory bowel disease.Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challengeInherited defects in lymphocyte cytotoxic activity.Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.Recombinant human soluble thrombomodulin is active against hemophagocytic lymphohistiocytosis associated with acquired immunodeficiency syndrome.Calcium-dependent plasma membrane binding and cell lysis by perforin are mediated through its C2 domain: A critical role for aspartate residues 429, 435, 483, and 485 but not 491.Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology GroupSelective inhibition of dipeptidyl peptidase I, not caspases, prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes.Clinical analysis and prognostic significance of haemophagocytic lymphohistiocytosis-associated anaplastic large cell lymphoma in children.Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis.Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.Human perforin gene variation is geographically distributed.Recycling endosomes in human cytotoxic T lymphocytes constitute an auxiliary intracellular trafficking pathway for newly synthesized perforin.Hematopoietic stem cell transplantation in children with Griscelli syndrome: A single-center experience.Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidanceInherited defects causing hemophagocytic lymphohistiocytic syndrome
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P2860
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
description
article
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im Juni 2002 veröffentlichter wissenschaftlicher Artikel
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wetenschappelijk artikel
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наукова стаття, опублікована в червні 2002
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name
Functional consequences of per ...... phagocytic lymphohistiocytosis
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Functional consequences of per ...... phagocytic lymphohistiocytosis
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type
label
Functional consequences of per ...... phagocytic lymphohistiocytosis
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Functional consequences of per ...... phagocytic lymphohistiocytosis
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prefLabel
Functional consequences of per ...... phagocytic lymphohistiocytosis
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Functional consequences of per ...... phagocytic lymphohistiocytosis
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P1476
Functional consequences of per ...... phagocytic lymphohistiocytosis
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Alain Fischer
Françoise Le Deist
Jérôme Feldmann
Marie Ouachée-Chardin
Nico Wulffraat
Sarah Alexander
Stéphane Blanche
Stéphanie Certain
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P304
P356
10.1046/J.1365-2141.2002.03534.X
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P577
2002-06-01T00:00:00Z