Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

Rheumatology International

Volumn 32, Issue 10, 2012, Pages 3253-3260

  Lainka, E ^a   Neudorf, U ^a   Lohse, P ^b   Timmann, C ^c   Bielak, M ^a   Stojanov, S ^d   Huss, K ^d   Von Kries, R ^d   Niehues, T ^e  

^a UNIVERSITY OF DUISBURG ESSEN   (Germany)

^b Institute for Laboratory Medicine   (Germany)

^c BERNHARD NOCHT INSTITUTE FOR TROPICAL MEDICINE   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

^e HELIOS KLINIKUM KREFELD   (Germany)

Author keywords

Autoinflammatory disease; ESPED; HIDS; HRF; MVK gene

Indexed keywords

AZATHIOPRINE; BIOLOGICAL MARKER; CORTICOSTEROID; IMMUNOGLOBULIN D; ISOLEUCINE; MEVALONATE KINASE; SIMVASTATIN; VALINE;

ABDOMINAL PAIN; ADOLESCENT; ARTHRALGIA; ARTHROPATHY; ARTICLE; BACKACHE; BODY TEMPERATURE; CERVICAL LYMPHADENOPATHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONJUNCTIVITIS; CORTICOSTEROID THERAPY; DIARRHEA; DISEASE DURATION; DISEASE SURVEILLANCE; FEMALE; FEVER; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; GERMANY; HEADACHE; HEALTH SURVEY; HETEROZYGOSITY; HUMAN; HYPERIMMUNOGLOBULINEMIA D AND PERIODIC FEVER SYNDROME; INCIDENCE; INFANCY; INFLAMMATION; MALE; MYALGIA; ONSET AGE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROSPECTIVE STUDY; QUESTIONNAIRE; RASH; RECURRENT DISEASE; SCHOOL CHILD; SKIN MANIFESTATION; VOMITING;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GERMANY; HETEROZYGOTE; HUMANS; INCIDENCE; INFANT; MALE; MEVALONATE KINASE DEFICIENCY; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); PROGNOSIS; PROSPECTIVE STUDIES; QUESTIONNAIRES; TIME FACTORS;

EID: 84867898868     PISSN: 01728172     EISSN: 1437160X     Source Type: Journal    
DOI: 10.1007/s00296-011-2180-8     Document Type: Article

References (31)

1. Drenth JP, Cuisset L, Grateau G et al (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22:178-181
2. Houten SM, Kuis W, Duran M et al (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22:175-177
3. Korppi M, van Gijn ME, Antila K (2011) Hyperimmunoglobulinemia D and periodic fever syndromes in children. Review on therapy with biological drugs and case report. Acta Paediatr 100:21-25
4. Simon A, Kremer HPH, Wevers RA et al (2004) Mevalonate kinase deficiency. Evidence for a phenotypic continuum. Neurology 62:994-997
5. Houten SM, van Woerden CS, Wijburg FA et al (2003) Carrier frequency of the V377I (1129G > A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet 11(2):196-200
6. Simon A, van der Meer JW, Vesely R et al (2006) International HIDS Study Group. Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology 45:269-273
7. Grateau G, Duruöz MT (2010) Autoinflammatory conditions: when to suspect? How to treat? Best Pract Res Clin Rheumatol 24(3):401-411
8. Lainka E, Neudorf U, Lohse P et al (2009) Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatology 48:987-991
9. Lainka E, Neudorf U, Lohse P et al (2010) Analysis of Cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics. Klin Padiatr 222:356-361
10. Sornsakrin M, Wenner K, Ganschow R (2009) B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome. Eur J Pediatr 168:825-831
11. Hospach T, Lohse P, Heilbronner H et al (2005) Pseudodominant inheritance of the hyperimmunoglobulinemia D with periodic fever syndrome in a mother and her two monozygotic twins. Arthritis Rheum 52(11):3606-3610
12. Hoffmann F, Lohse P, Stojanov S et al (2005) Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. Eur J Hum Genet 13:510-512
13. Simon A, Mariman EC, van der Meer JW, Drenth JP (2003) A founder effect in the hyperimmunoglobulinemia D and periodic fever syndrome. Am J Med 114:148-152
14. De Sanctis S, Nozzi M, Del Torto M et al (2010) Autoinflammatory syndromes: diagnosis and management. Ital J Pediatr 36:57
15. Grose C (2005) Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations. Pediatr Infect Dis J 24(6):573-574
16. Simon A, Cuisset L, Vincent MF et al (2001) Molecular analysis of the mevalonate kinase gene in a cohort of patients with the Hyper-IgD and periodic fever syndrome: its application as a diagnostic tool. Ann Intern Med 135:338-343
17. Van der Hilst JCH, Bodar EJ, Barron KS et al (2008) Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 87(6):301-310
18. Gattorno M, Sormani MP, D'Osualdo A et al (2008) A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 58:1823-1832
19. D'Osualdo A, Picco P, Caroli F et al (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet 13:314-320
20. Piram M, Frenkel J, Gattorno M et al (2011) A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-inflammatory diseases activity index) consensus conference. Ann Rheum Dis 70:309-314
21. Van der Hilst JCH, Frenkel J (2010) Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep 12(2):101-107
22. Steichen O, van der Hilst JCH, Simon A et al (2009) A clinical criterion to exclude the hyperimmunoglobulin D syndrome (mild mevalonate kinase deficiency) in patients with recurrent fever. J Rheumatol 36(8):1677-1681
23. Stojanov S, Kastner DL (2005) Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol 17:586-599
24. Ryan JG, Kastner DL (2008) Fevers, genes, and innate immunity. Curr Top Microbiol Immunol 321:169-184
25. Cuisset L, Drenth JPH, Simon A (2001) Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet 9:260-266
26. Bodar EJ, Drenth JPH, van der Meer JWM et al (2009) Dysregulation of innate immunity: hereditary periodic fever syndromes. Br J Haematol 144(3):279-302
27. Rigante D (2009) Autoinflammatory syndromes behind the scenes of recurrent fevers in children. Med Sci Monit 15(8):RA179-RA187
28. Stojanov S, Lohse P, Lohse P et al (2004) Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 50(6):1951-1958
29. Federici L, Rittore-Domingo C et al (2006) A decision tree for genetic diagnosis of HPF in unselected patients. Ann Rheum Dis 65:1427-1432
30. Touitou I, Hentgen V, Koné-Paut I (2009) Web resources for rare auto-inflammatory diseases: towards a common patient registry. Rheumatology 48(6):665-669
31. Lainka E, Bielak M, Hilger V et al (2011) Translational research network and patient registry for auto-inflammatory diseases (AID-Net). Rheumatology 50:237-242