Literature DB >> 23998246

Recurrent fevers and failure to thrive in an infant.

David R Scott1, Sarah Chan, Johanna Chang, Lori Broderick, Hal M Hoffman.   

Abstract

We describe a 2-year old boy with consanguineous parents who recently emigrated from India and presented with oral ulcers and lymphadenopathy. He also had a history of recurrent fevers, polyarticular arthritis, chronic diarrhea, failure to thrive, and developmental delay. Infectious workup revealed herpes simplex virus 1 viremia and radiological evaluation revealed osteopenia and erosions involving multiple joints. We describe the immunologic and genetic evaluation of this patient and discuss the diagnostic and therapeutic approach to an infant with recurrent fevers.

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Year:  2013        PMID： 23998246      PMCID： PMC8242986          DOI： 10.2500/aap.2013.34.3672

Source DB:  PubMed          Journal:  Allergy Asthma Proc        ISSN： 1088-5412            Impact factor:   2.587


  17 in total

1.  Allogeneic bone marrow transplantation in mevalonic aciduria.

Authors:  Bénédicte Neven; Vassili Valayannopoulos; Pierre Quartier; Stéphane Blanche; Anne-Marie Prieur; Marianne Debré; Marie-Odile Rolland; Daniel Rabier; Laurence Cuisset; Marina Cavazzana-Calvo; Pascale de Lonlay; Alain Fischer
Journal:  N Engl J Med       Date:  2007-06-28       Impact factor: 91.245

2.  Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome.

Authors:  Donato Rigante; Valentina Ansuini; Barbara Bertoni; Anna Lisa Pugliese; Laura Avallone; Gilda Federico; Achille Stabile
Journal:  Rheumatol Int       Date:  2006-07-27       Impact factor: 2.631

3.  Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model.

Authors:  E J Bodar; J C H van der Hilst; J P H Drenth; J W M van der Meer; A Simon
Journal:  Neth J Med       Date:  2005 Jul-Aug       Impact factor: 1.422

4.  Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.

Authors:  S M Houten; W Kuis; M Duran; T J de Koning; A van Royen-Kerkhof; G J Romeijn; J Frenkel; L Dorland; M M de Barse; W A Huijbers; G T Rijkers; H R Waterham; R J Wanders; B T Poll-The
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

5.  Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

Authors:  J P Drenth; L Cuisset; G Grateau; C Vasseur; S D van de Velde-Visser; J G de Jong; J S Beckmann; J W van der Meer; M Delpech
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

Review 6.  Biochemical and genetic aspects of mevalonate kinase and its deficiency.

Authors:  S M Houten; R J Wanders; H R Waterham
Journal:  Biochim Biophys Acta       Date:  2000-12-15

7.  A role for geranylgeranylation in interleukin-1beta secretion.

Authors:  Saskia H L Mandey; Loes M Kuijk; Joost Frenkel; Hans R Waterham
Journal:  Arthritis Rheum       Date:  2006-11

8.  Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome.

Authors:  Sander M Houten; Joost Frenkel; Ger T Rijkers; Ronald J A Wanders; Wietse Kuis; Hans R Waterham
Journal:  Hum Mol Genet       Date:  2002-12-01       Impact factor: 6.150

9.  Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.

Authors:  Kazuki Takada; Ivona Aksentijevich; Vijayabhanu Mahadevan; Jane A Dean; Richard I Kelley; Daniel L Kastner
Journal:  Arthritis Rheum       Date:  2003-09

10.  Mevalonate kinase deficiency: Evidence for a phenotypic continuum.

Authors:  A Simon; H P H Kremer; R A Wevers; H Scheffer; J G De Jong; J W M Van Der Meer; J P H Drenth
Journal:  Neurology       Date:  2004-03-23       Impact factor: 9.910
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