Journal Article10.1038/SJ.EJHG.5201266
CD40 ligand gene and Kawasaki disease
Yoshihiro Onouchi,Sakura Onoue,Mayumi Tamari,Keiko Wakui,Yoshimitsu Fukushima,Mayumi Yashiro,Yoshikazu Nakamura,Hiroshi Yanagawa,Fumio Kishi,Kazunobu Ouchi,Masaru Terai,Kunihiro Hamamoto,Fumiyo Kudo,Hiroyuki Aotsuka,Yoshitake Sato,Akiyoshi Nariai,Yoichi Kaburagi,Masaru Miura,Tsutomu Saji,Tomisaku Kawasaki,Yusuke Nakamura,Akira Hata +21 more
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TL;DR: A role of CD40L in the pathogenesis of CAL is suggested and might explain the excess of males affected with KD and a newly identified SNP in intron 4 is marginally over-represented in KD patients as compared to controls.
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Abstract: Kawasaki disease (KD) is an acute systemic vasculitis syndrome of infants and young children. Although its etiology is largely unknown, epidemiological findings suggest that genetic factors play a role in the pathogenesis of KD. To identify genetic factors, affected sib-pair analysis has been performed. One of the identified peaks was located on the Xq26 region. A recent report of elevated expression of CD40 ligand (CD40L), which maps to Xq26, during the acute-phase KD, and its relationship to the development of coronary artery lesions (CAL) prompted us to screen for polymorphism of CD40L and to study the association of the gene to KD. A newly identified SNP in intron 4 (IVS4+121 A>G) is marginally over-represented in KD patients as compared to controls (109/602, 18.1 vs 111/737, 15.1%). When male KD patients with CAL were analyzed as a patient group, the SNP was significantly more frequent than in controls (15/58, 25.9%, vs 111/737, 15.1%, OR=2.0, 95% CI=1.07-3.66; P=0.030). Interestingly, this variation was extremely rare in a control Caucasian population (1/145, 0.7%). Our results suggest a role of CD40L in the pathogenesis of CAL and might explain the excess of males affected with KD.
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COVID-19 and multisystem inflammatory syndrome in children and adolescents.
Li Jiang,Kun Tang,Michael Levin,Omar Irfan,Shaun K. Morris,Karen M. Wilson,Jonathan D. Klein,Zulfiqar A Bhutta +7 more
TL;DR: In this paper, the authors reviewed the epidemiology, causes, clinical features, and current treatment protocols for multisystem inflammatory syndrome in children and adolescents associated with COVID-19.
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TL;DR: In this paper, the authors outline the pathophysiology of Kawasaki disease and summarize and discuss the progress gained from experimental mouse models and their potential therapeutic translation to human disease, in turn leading to the development of innovative therapeutic approaches.
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TL;DR: The aspects based on infection agents, host immune dysregulation and genetic background intended to establish a feasible infection-immunogenetic pathogenesis for this mysterious disease and also provided the rational strategy to explore optimal treatment of this disease are reviewed.
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Genetics of Kawasaki disease: what we know and don't know.
TL;DR: Genetic factors underlying the disease pathogenesis, which have been suggested by epidemiological findings, are expected to be clues to the enigma.
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Kawasaki disease: update on pathogenesis
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References
Detecting recent positive selection in the human genome from haplotype structure
Pardis C. Sabeti,David Reich,John M. Higgins,Haninah Z P Levine,Daniel J. Richter,Stephen F. Schaffner,Stacey Gabriel,Jill Platko,Nick Patterson,Gavin J. McDonald,Hans Ackerman,Sarah J. Campbell,David Altshuler,David Altshuler,Richard H. Cooper,Dominic P. Kwiatkowski,Ryk Ward,Eric S. Lander +17 more
TL;DR: A framework for detecting the genetic imprint of recent positive selection by analysing long-range haplotypes in human populations is introduced, and the core haplotypes carrying the proposed protective mutation stand out and show significant evidence of selection.
2.2K
CD40 ligand on activated platelets triggers an inflammatory reaction of endothelial cells
Volker Henn,Joseph R. Slupsky,Michael Gräfe,Ioannis Anagnostopoulos,Reinhold Förster,Gert Müller-Berghaus,Richard A. Kroczek +6 more
TL;DR: In this paper, platelets express CD40L within seconds of activation in vitro and in the process of thrombus formation in vivo, indicating that platelets are not only involved in haemostasis but that they also directly initiate an inflammatory response of the vessel wall.
2.1K
The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
Alejandro Aruffo,Alejandro Aruffo,Mary Farrington,Diane Hollenbaugh,Xu Li,Athena Milatovich,Shigeaki Nonoyama,Jürgen Bajorath,Laura Sue Grosmaire,Ronald E. Stenkamp,Michael G. Neubauer,Robert L. Roberts,Randolph J. Noelle,Jeffrey A. Ledbetter,Uta Francke,Hans D. Ochs +15 more
TL;DR: It is reported that patients with hyper-IgM syndrome (HIM) have a defective gp39-CD40 interaction, which suggests that a defect in gp39 is the basis of X-linked HIM.
873
CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome
R. Cutler Allen,Richard J. Armitage,Mary Ellen Conley,Howard M. Rosenblatt,Nancy A. Jenkins,Neal G. Copeland,Mary A. Bedell,Susanne Edelhoff,Christine M. Disteche,Denise K. Simoneaux,William C. Fanslow,John W. Belmont,Melanie K. Spriggs +12 more
TL;DR: Abnormalities in the CD40L gene were associated with an X-linked immunodeficiency in humans [hyper-IgM (immunoglobulin M) syndrome], characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes.
871
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
TL;DR: CD40L transcripts in four unrelated male children with the hyper-IgM syndrome showed either deletions or point mutations clustered within a limited region of the CD40L extracellular domain provide a molecular basis for immunoglobulin isotype switch defects observed in this immunodeficiency.
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