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Hemophagocytic lymphohistiocytosis

About: Hemophagocytic lymphohistiocytosis is a research topic. Over the lifetime, 3063 publications have been published within this topic receiving 65559 citations. The topic is also known as: HPS & Hemophagocytic syndrome.


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Journal ArticleDOI
TL;DR: HLH‐2004 chemo‐immunotherapy includes etoposide, dexamethasone, cyclosporine A upfront and, in selected patients, intrathecal therapy with methotrexate and corticosteroids, and subsequent hematopoietic stem cell transplantation is recommended for patients with familial disease or molecular diagnosis, and patients with severe and persistent, or reactivated, disease.
Abstract: In HLH-94, the first prospective international treatment study for hemophagocytic lymphohistiocytosis (HLH), diagnosis was based on five criteria (fever, splenomegaly, bicytopenia, hypertriglyceridemia and/or hypofibrinogenemia, and hemophagocytosis). In HLH-2004 three additional criteria are introduced; low/absent NK-cell-activity, hyperferritinemia, and high-soluble interleukin-2-receptor levels. Altogether five of these eight criteria must be fulfilled, unless family history or molecular diagnosis is consistent with HLH. HLH-2004 chemo-immunotherapy includes etoposide, dexamethasone, cyclosporine A upfront and, in selected patients, intrathecal therapy with methotrexate and corticosteroids. Subsequent hematopoietic stem cell transplantation (HSCT) is recommended for patients with familial disease or molecular diagnosis, and patients with severe and persistent, or reactivated, disease. In order to hopefully further improve diagnosis, therapy and biological understanding, participation in HLH studies is encouraged.

3,848 citations

Journal ArticleDOI
03 Dec 1999-Science
TL;DR: In this paper, the coding regions of the perforin gene of eight unrelated 10q21-22-linked FHL patients revealed homozygous nonsense mutations in four patients and missense mutations in the other four patients.
Abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by uncontrolled activation of T cells and macrophages and overproduction of inflammatory cytokines. Linkage analyses indicate that FHL is genetically heterogeneous and linked to 9q21.3-22, 10q21-22, or another as yet undefined locus. Sequencing of the coding regions of the perforin gene of eight unrelated 10q21-22–linked FHL patients revealed homozygous nonsense mutations in four patients and missense mutations in the other four patients. Cultured lymphocytes from patients had defective cytotoxic activity, and immunostaining revealed little or no perforin in the granules. Thus, defects in perforin are responsible for 10q21-22–linked FHL. Perforin-based effector systems are, therefore, involved not only in the lysis of abnormal cells but also in the down-regulation of cellular immune activation.

1,126 citations

Journal ArticleDOI
TL;DR: Analysis of the genetic and molecular pathophysiology of these syndromes have improved the understanding of the crosstalk between lymphocytes and histiocytes and their regulatoty mechanisms, and it is essential to initiate appropriate treatment and improve the quality of life and survival of patients with this challenging disorder.

938 citations

Journal ArticleDOI
13 Oct 2011-Blood
TL;DR: The clinical manifestations and patterns of HLH are reviewed and the approach to the diagnosis and therapy for this elusive and potentially lethal condition is described.

845 citations

Journal ArticleDOI
01 Oct 2002-Blood
TL;DR: HLH-94 is very effective, allowing BMT in most patients, and survival of children with HLH has been greatly improved.

734 citations


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Performance
Metrics
No. of papers in the topic in previous years
YearPapers
2023245
2022561
2021364
2020357
2019279
2018233