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Rheumatology Advance Access originally published online on October 18, 2005
Rheumatology 2006 45(3):269-273; doi:10.1093/rheumatology/kei138
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© The Author 2005. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes

A. Simon1, J. W. M. van der Meer1, R. Vesely3, U. Myrdal4, K. Yoshimura5, P. Duys6, J. P. H. Drenth1,2 and Contributing members of the International HIDS Study Group7

Division of 1 General Internal Medicine and 2 Gastroenterology and Hepatology, Department of Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 3 Department of Pediatrics, Faculty Hospital, Kosice, Slovakia, 4 Pediatric and Adolescent Clinic, Central Hospital Vastmanland, Vasteras, Sweden, 5 Department of Pediatrics, Tosa Municipal Hospital, Tosa City, Japan and 6 Department of Pediatrics, Gemini Hospital, Den Helder, The Netherlands. 7 Contributing members of the International HIDS Study Group: A. Ahlin, Sach's Children's Hospital, Stockholm, Sweden; C. G. Arvidsson, Department of Pediatrics, Central Hospital Vastmanland, Vasteras, Sweden; P. Betts, Southampton General Hospital, UK; J. W. J. Bijlsma, Department of Rheumatology, University Medical Center Utrecht, The Netherlands; H. R. van den Brink, Department of Rheumatology, Medical Center Alkmaar, The Netherlands; L. Businco, Department of Pediatrics, University La Sapienza, Rome, Italy; C. Chapelon, Department of Internal Medicine, Hopital Pitie-Salpetriere, Paris, France; C. J. Darroch, Department of Immunology, Royal Liverpool University Hospital, Liverpool, UK; J. J. David, Comprehensive Care for Infants, Lincoln Pediatric Group, Lincoln, NB, USA; M. van Deuren, Department of Internal Medicine, University Medical Center St Radboud, Nijmegen, The Netherlands; E. Drewe, Clinical Immunology Unit, Queen's Medical Centre, Nottingham, UK; E. Elias, The Liver and Hepatobiliary Unit, Queen Elizabeth Hospital, Birmingham, UK; T. Espanol, Department of Immunology, Hospital General, Ciutat Saitaria i Universtiaria, Barcelona, Spain; A. M. Farrell, Department of Histocompatibility and Immunogenetics, Glasgow Royal Infirmary, Glasgow, UK; T. Fiselier, Department of Pediatrics, University Medical Center St Radboud, Nijmegen, The Netherlands; E. V. Granowitz, Infectious Disease Division, Tufts School of Medicine, Springfield, MA, USA; H. J. Hasper, Department of Internal Medicine, Deventer Hospital, Deventer, The Netherlands; D. Jilek, Department of Immunology, Regional Hygiene Institute, Usti nad Labem, Czech Republic; D. C. Knockaert, Department of General Internal Medicine, University Hospital Gasthuisberg, Leuven, Belgium; M. Korppi, Department of Pediatrics, Kuopio University Hospital, Kuopio, Finland; H. P. H. Kremer, Department of Neurology, University Medical Center St Radboud, Nijmegen, The Netherlands; T. W. Kuijpers, Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands; J. Louis, Department of Pediatrics, Clinique Notre Dame, Charleroi, Belgium; C. E. M. de Maat, Department of Internal Medicine, St Antonius Hospital, Nieuwegein, The Netherlands; J. Palmblad, Department of Medicine, Karolinska Institutet at Huddinge University Hospital, Stockholm, Sweden; P. Pohunek, Division of Pediatric Pulmonology, University Hospital Motol, Prague, Czech Republic; R. J. Powell, Clinical Immunology Unit, Queen's Medical Centre, Nottingham, UK; J. J. Rasker, Department of Rheumatology, Medisch Spectrum Twente, Enschede, The Netherlands; K. Riesbeck, Department of Medical Microbiology, Malmö University Hospital, Malmö, Sweden; U. Saatci, Department of Pediatrics, Hacettepe Children's Hospital, Ankara, Turkey; P. T. A. Schellekens, Department of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands; R. M. Scolozzi, Department of Internal Medicine, University of Ferrara, Italy; C. D. A. Stehouwer, Department of Internal Medicine, Free University Medical Center, Amsterdam, The Netherlands; C. A. M. de Swart, Department of Internal Medicine, Spaarne Hospital, Heemstede, The Netherlands; K. Takada, National Institute of Health, Bethesda, MD, USA; R. Tamminga, Department of Pediatrics, Academic Hospital Groningen, The Netherlands; T. Tribolet de Abreu, Department of Internal Medicine, Hospital do Espírito Santo-Évora, Évora, Portugal; C. M. R. Weemaes, Department of Pediatrics, University Medical Center St Radboud, Nijmegen, The Netherlands.

Correspondence to: A. Simon, Division of General Internal Medicine, 541, Department of Medicine, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands. E-mail: a.simon{at}aig.umcn.nl

Objective. Hereditary autoinflammatory syndromes are characterized by recurrent episodes of fever and inflammation. Seven subtypes have been described, caused by mutations in four different genes. Apart from a common phenotype of lifelong recurrent inflammatory attacks, all subtypes have distinct features and specific therapeutic options, which emphasizes the need for a specific diagnosis in each case. Our aim was to examine whether genetic screening would allow classification of previously unclassified patients, and whether individual patients suffering from an autoinflammatory syndrome carry additional mutations in one of the other autoinflammatory genes.

Methods. We included 60 patients with an unclassified autoinflammatory syndrome, 87 patients diagnosed with either hyper-IgD syndrome, familial Mediterranean fever (FMF) or tumour necrosis factor (TNF)-receptor-associated periodic syndrome and 50 healthy controls. Deoxyribonucleic acid samples were screened for the most prevalent mutations in the MEFV, TNFRSF1A, MVK and CIAS1 genes.

Results. We found only one possible diagnosis of FMF in the 60 previously unclassified patients. Two low-penetrance mutations were found in equal numbers in the groups of patients and controls.

Conclusions. Screening of highly prevalent mutations in known genes involved in these disorders does not yield additional relevant information. Differential diagnosis of hereditary autoinflammatory syndromes can be made by thorough clinical examination followed by targeted genetic analysis of the one or two most likely syndromes. High-prevalence low-penetrant mutations from autoinflammatory genes do not occur more frequently in patients with hereditary autoinflammatory syndromes compared with the general population.

KEY WORDS: Hereditary autoinflammatory syndromes, Periodic fever, FMF, HIDS, TRAPS, CAPS, Mevalonate kinase, Pyrin, Cryopyrin, TNFRSF1A


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 Am. J. Physiol. Regul. Integr. Comp. Physiol.Home page
A. Simon and J. W. M. van der Meer
Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes
Am J Physiol Regulatory Integrative Comp Physiol, January 1, 2007; 292(1): R86 - R98.
[Abstract] [Full Text] [PDF]


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