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Page 1
Immunopathogenesis and treatment of cytokine storm in COVID-19.
Kim JS, Lee JY, Yang JW, Lee KH, Effenberger M, Szpirt W, Kronbichler A, Shin JI. Kim JS, et al. Theranostics. 2021 Jan 1;11(1):316-329. doi: 10.7150/thno.49713. eCollection 2021. Theranostics. 2021. PMID: 33391477 Free PMC article. Review.
While comparisons have been made between COVID-19 cytokine storm and other kinds of cytokine storm such as hemophagocytic lymphohistiocytosis and cytokine release syndrome, the pathogenesis of cytokine storm has not been clearly elucidated yet. Recent studies have s …
While comparisons have been made between COVID-19 cytokine storm and other kinds of cytokine storm such as hemophagocytic lymphohi …
Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.
Gholam C, Grigoriadou S, Gilmour KC, Gaspar HB. Gholam C, et al. Clin Exp Immunol. 2011 Mar;163(3):271-83. doi: 10.1111/j.1365-2249.2010.04302.x. Clin Exp Immunol. 2011. PMID: 21303357 Free PMC article. Review.
Familial haemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune dysregulation associated with uncontrolled T cell and macrophage activation and hypercytokinaemia. ...Type 1 is due to an as yet unidentified gene defec …
Familial haemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune dysregulation associated w …
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
Zhang J, Sun Y, Shi X, Zhang R, Wang Y, Xiao J, Cao J, Gao Z, Wang J, Wu L, Wei W, Wang Z. Zhang J, et al. Orphanet J Rare Dis. 2020 May 6;15(1):112. doi: 10.1186/s13023-020-01390-z. Orphanet J Rare Dis. 2020. PMID: 32375849 Free PMC article.

BACKGROUND: Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. ...NK cell activity and CD107a were observed to show a consistent trend (P(trend) < 0.001) when grouping patients according to th

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BACKGROUND: Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic t …
Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S. Brauer N, et al. Front Immunol. 2023 Jun 14;14:1151166. doi: 10.3389/fimmu.2023.1151166. eCollection 2023. Front Immunol. 2023. PMID: 37388727 Free PMC article.
We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic lymphohistiocytosis (HLH). METHODS AND RESULTS: Overall, family members presented with variable impairment of NK cell and cytotoxic T c …
We present a unique consanguineous family with a history of Hodgkin lymphoma, impaired EBV control and a late onset hemophagocytic …
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M, Ciambotti B, Brugnolo F, zur Stadt U, Pende D, Moretta L, Griffiths GM, Henter JI, Janka G, Aricò M. Sieni E, et al. J Med Genet. 2011 May;48(5):343-52. doi: 10.1136/jmg.2010.085456. Epub 2011 Jan 19. J Med Genet. 2011. PMID: 21248318 Free PMC article.
BACKGROUND: Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898). ...METHODS: A consortium of three countries pooled data on presenting features and mutations from individual patients with biallelic UNC …
BACKGROUND: Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 60889 …
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.
Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group. Trizzino A, et al. J Med Genet. 2008 Jan;45(1):15-21. doi: 10.1136/jmg.2007.052670. Epub 2007 Sep 14. J Med Genet. 2008. PMID: 17873118
BACKGROUND: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2). Genotype-phenotype analysis, previously hampered by limited numbers of patients, was for the first time performed by data pooling from five large c …
BACKGROUND: PRF1 gene mutations are associated with familial haemophagocytic lymphohistiocytosis type 2 (FHL2). Genotyp …
Treatment of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH); update 2010.
Imashuku S. Imashuku S. J Pediatr Hematol Oncol. 2011 Jan;33(1):35-9. doi: 10.1097/MPH.0b013e3181f84a52. J Pediatr Hematol Oncol. 2011. PMID: 21088619
The clinical features of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH) vary significantly, from mild to severe, at the time of the treatment decision. There are many reports of successful treatments, for example conservative treatment witho …
The clinical features of Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH) vary significantly, from mild …
Management of XLP-1 and ITK deficiency: The challenges posed by PID with an unpredictable spectrum of disease manifestations.
Shadur B, Abuzaitoun O, NaserEddin A, Even-Or E, Zaidman I, Stepensky P. Shadur B, et al. Clin Immunol. 2019 Jan;198:39-45. doi: 10.1016/j.clim.2018.12.016. Epub 2018 Dec 17. Clin Immunol. 2019. PMID: 30572125
The family of EBV (Epstein Barr Virus)-sensitive primary immune deficiencies is one such group and in this paper we describe three families: two with X-linked lymphoproliferative disease type-1 (XLP-1) and one with deficiency of Interleukin-2 Inducible T-cell …
The family of EBV (Epstein Barr Virus)-sensitive primary immune deficiencies is one such group and in this paper we describe three families: …
Requirement for etoposide in the treatment of pregnancy related hemophagocytic lymphohistiocytosis: a multicenter retrospective study.
Song Y, Wang Z, Hao Z, Li L, Lu J, Kang H, Lu Y, You Y, Li L, Chen Q, Chen B. Song Y, et al. Orphanet J Rare Dis. 2019 Feb 18;14(1):50. doi: 10.1186/s13023-019-1033-5. Orphanet J Rare Dis. 2019. PMID: 30777105 Free PMC article.
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. ...According to a previous study, corticosteroid/IVIG is the mainstream therapy; however, the efficacy is controversial. Etoposide is an important agent in the HLH-94 reg …
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare severe clinical syndrome. ...According to a previous study, cor …
Reduced-intensity conditioning hematopoietic cell transplantation is an effective treatment for patients with SLAM-associated protein deficiency/X-linked lymphoproliferative disease type 1.
Marsh RA, Bleesing JJ, Chandrakasan S, Jordan MB, Davies SM, Filipovich AH. Marsh RA, et al. Biol Blood Marrow Transplant. 2014 Oct;20(10):1641-5. doi: 10.1016/j.bbmt.2014.06.003. Epub 2014 Jun 9. Biol Blood Marrow Transplant. 2014. PMID: 24923536 Free article.
X-linked lymphoproliferative disease type 1 (XLP1) is a rare immune deficiency caused by mutations in SH2D1A. ...Sixteen consecutive patients diagnosed with XLP1 underwent allogeneic HCT between 2006 and 2013 after a RIC regimen consisting of alemtuzumab, fludarabin …
X-linked lymphoproliferative disease type 1 (XLP1) is a rare immune deficiency caused by mutations in SH2D1A. ...Sixteen conse …