Literature DB >> 25469482

11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.

Grant S Schulert1, Kevin Bove1, Richard McMasters1, Kathleen Campbell1, Nancy Leslie1, Alexei A Grom1.   

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Year:  2015        PMID： 25469482      PMCID： PMC4452461          DOI： 10.1002/acr.22527

Source DB:  PubMed          Journal:  Arthritis Care Res (Hoboken)        ISSN： 2151-464X            Impact factor:   4.794


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  39 in total

1.  Growing pains: the ILAR classification of juvenile idiopathic arthritis.

Authors:  R E Petty
Journal:  J Rheumatol       Date:  2001-05       Impact factor: 4.666

2.  Significant liver disease in a patient with Y116H mutation in the MVK gene.

Authors:  Melissa Leyva-Vega; Pamela F Weiss; Jaya Ganesh; Laura Conlin; Nancy B Spinner; Randolph P Matthews
Journal:  Am J Med Genet A       Date:  2011-05-05       Impact factor: 2.802

Review 3.  New agents and approaches to treatment in Niemann-Pick type C disease.

Authors:  María S Pérez-Poyato; Mercé Pineda
Journal:  Curr Pharm Biotechnol       Date:  2011-06       Impact factor: 2.837

4.  Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome.

Authors:  Alexei A Grom; Joyce Villanueva; Susan Lee; Ellen A Goldmuntz; Murray H Passo; Alexandra Filipovich
Journal:  J Pediatr       Date:  2003-03       Impact factor: 4.406

5.  Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

Authors:  Sebastiaan J Vastert; Richard van Wijk; Leila E D'Urbano; Karen M K de Vooght; Wilco de Jager; Angelo Ravelli; Silvia Magni-Manzoni; Antonella Insalaco; Elisabetta Cortis; Wouter W van Solinge; Berent J Prakken; Nico M Wulffraat; Fabrizio de Benedetti; Wietse Kuis
Journal:  Rheumatology (Oxford)       Date:  2009-12-17       Impact factor: 7.580

6.  Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.

Authors:  Jeroen C H van der Hilst; Evelien J Bodar; Karyl S Barron; Joost Frenkel; Joost P H Drenth; Jos W M van der Meer; Anna Simon
Journal:  Medicine (Baltimore)       Date:  2008-11       Impact factor: 1.889

Review 7.  Autoantibodies and their antigens in autoimmune hepatitis.

Authors:  Dimitrios P Bogdanos; Giorgina Mieli-Vergani; Diego Vergani
Journal:  Semin Liver Dis       Date:  2009-08-12       Impact factor: 6.115

8.  Statin synergizes with LPS to induce IL-1beta release by THP-1 cells through activation of caspase-1.

Authors:  Loes M Kuijk; Saskia H Mandey; Ingrid Schellens; Hans R Waterham; Ger T Rijkers; Paul J Coffer; Joost Frenkel
Journal:  Mol Immunol       Date:  2008-02-01       Impact factor: 4.407

9.  Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms.

Authors:  Kejian Zhang; Jennifer Biroschak; David N Glass; Susan D Thompson; Terri Finkel; Murray H Passo; Bryce A Binstadt; Alexandra Filipovich; Alexei A Grom
Journal:  Arthritis Rheum       Date:  2008-09

Review 10.  Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).

Authors:  Seth L Masters; Anna Simon; Ivona Aksentijevich; Daniel L Kastner
Journal:  Annu Rev Immunol       Date:  2009       Impact factor: 28.527
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  8 in total

Review 1.  Anakinra treatment in macrophage activation syndrome: a single center experience and systemic review of literature.

Authors:  Hafize Emine Sönmez; Selcan Demir; Yelda Bilginer; Seza Özen
Journal:  Clin Rheumatol       Date:  2018-04-16       Impact factor: 2.980

Review 2.  Macrophage activation syndrome in the course of monogenic autoinflammatory disorders.

Authors:  Donato Rigante; Giacomo Emmi; Michele Fastiggi; Elena Silvestri; Luca Cantarini
Journal:  Clin Rheumatol       Date:  2015-04-08       Impact factor: 3.650

3.  Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.

Authors:  Grant S Schulert; Mingce Zhang; Ndate Fall; Ammar Husami; Diane Kissell; Andrew Hanosh; Kejian Zhang; Kristina Davis; Jeffrey M Jentzen; Lena Napolitano; Javed Siddiqui; Lauren B Smith; Paul W Harms; Alexei A Grom; Randy Q Cron
Journal:  J Infect Dis       Date:  2015-11-23       Impact factor: 5.226

Review 4.  Hyper-IgD syndrome/mevalonate kinase deficiency: what is new?

Authors:  C M Mulders-Manders; A Simon
Journal:  Semin Immunopathol       Date:  2015-05-20       Impact factor: 9.623

5.  Gene Expression Analysis of Mevalonate Kinase Deficiency Affected Children Identifies Molecular Signatures Related to Hematopoiesis.

Authors:  Simona Pisanti; Marianna Citro; Mario Abate; Mariella Caputo; Rosanna Martinelli
Journal:  Int J Environ Res Public Health       Date:  2021-01-28       Impact factor: 3.390

Review 6.  Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review.

Authors:  Caroline Vinit; Sophie Georgin-Lavialle; Aikaterini Theodoropoulou; Catherine Barbier; Alexandre Belot; Manel Mejbri; Pascal Pillet; Jana Pachlopnik; Sylvaine Poignant; Charlotte Rebelle; Andreas Woerner; Isabelle Koné-Paut; Véronique Hentgen
Journal:  Front Immunol       Date:  2021-11-11       Impact factor: 7.561

Review 7.  Natural history of mevalonate kinase deficiency: a literature review.

Authors:  Shumin Zhang
Journal:  Pediatr Rheumatol Online J       Date:  2016-05-04       Impact factor: 3.054

Review 8.  Mevalonate kinase deficiency: current perspectives.

Authors:  Leslie A Favier; Grant S Schulert
Journal:  Appl Clin Genet       Date:  2016-07-20
  8 in total

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