Skip to main content

Advertisement

Log in

Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (>100U/ml). This familial disorder has been diagnosed in 56 subjects worldwide. As the hyper-IgD syndrome resembles familial Mediterranean fever, one could speculate that both result from mutations in the same gene. The gene causing familial Mediterranean fever (MEF) has been located on chromosome 16p. We have studied 10 families with 19 affected and 28 non-affected subjects. The clinical findings and IgD determinations from these families are compatible with autosomal recessive inheritance. Using highly polymorphic markers surrounding the MEF gene, only negative Lod scores were obtained, whereas haplotype analysis excluded this locus as the cause of the hyper-IgD syndrome. In addition, no indication for linkage was obtained with markers from other candidate gene regions on chromosomes 17q and 14q.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Aksentijevich I, Gruberg L, Pras E, Balow JE, Kovo M, Gazit E, Dean M, Pras M, Kastner DL (1993a) Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q: second locus or type I error? Hum Genet 91: 527–535

    Google Scholar 

  • Aksentijevich I, Pras E, Gruberg L, Shen Y, Holman K, Helling S, Prosen E, Sutherland GR, Richards RI, Ramsburg M, Dean M, Pras M, Amos CI, Kastner DE (1993b) Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies. Am J Hum Genet 53: 451–461

    Google Scholar 

  • Drenth JPH, Haagsma CJ, Van der Meer JWM (1994a) Hyperimmunoglobulinemia D and periodic fever. The clinical spectrum in a series of 50 patients. Medicine (Baltimore) 73: 133–144

    Google Scholar 

  • Drenth JPH, Boom BW, Toonstra J, Van der Meer JWM (1994b) Cutaneous manifestations and histologie findings in the hyperimmunoglobulinemia D syndrome. Arch Dermatol 130: 59–65

    Article  CAS  PubMed  Google Scholar 

  • Federspiel B, Tonz O (1987) Familiäres Mittelmeerfieber. Beobachtung bei einem Schweizerkind. Schweiz Med Wschr 117: 173–178

    Google Scholar 

  • Hiemstra I, Vossen JM, Van der Meer JWM, Weemaes CMR, Out TA, Zegers BJM (1989) Clinical and immunological studies in patients with increased serum IgD level. J Clin Immunol 9: 939–400

    Google Scholar 

  • Hofker MH, Walter MA, Cox DW (1989) Complete physical map of the human immunoglobulin heavy chain constant region gene complex. Proc Natl Acad Sci USA 86: 5567–5571

    Google Scholar 

  • Eathrop GM, Ealouel JM, Julier C, Ott J (1985) Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 37: 482–498

    Google Scholar 

  • Eevy E, Pras E, Aksentijevich I, Prosen E, Swain P, Keith T, Shen Y, Richards RI, Dean M, Pras M, Kastner DE (1993) Refined mapping of the gene causing familial Mediterranean fever. Am J Hum Genet 54: 1033

    Google Scholar 

  • Majeed HA, Barakat M (1989) Familial Mediterranean fever (recurrent heriditary polyserositis) in children: analysis of 88 cases. Eur J Pediatr 148: 636–641

    Google Scholar 

  • Meyerhoff J (1980) Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis. Medicine (Baltimore) 59: 66–77

    Google Scholar 

  • Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215

    CAS  PubMed  Google Scholar 

  • NIH/CEPH collaborative mapping group (1992) A comprehensive linkage map of the human genome. Science 258: 67–85

    Google Scholar 

  • Pras E, Aksentijevich I, Gruberg E, Balow JE, Prosen E, Dean M, Steinberg AD, Pras M, Kastner DL (1992) Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 326: 1509–1513

    CAS  PubMed  Google Scholar 

  • Reeves WG, Mitchell JRA (1984) Hyperimmunoglobulinemia D and periodic fever. Lancet I: 1463–1464

    Google Scholar 

  • Shohat M, Bu X, Shohat T, Fischel Ghodsian N, Magal N, Nakamura Y, Schwabe AD, Schlezinger M, Danon Y, Rotter JI (1992) The gene for familial Mediterranean fever in both Armenians and non-Askhenazi Jews is linked to the α-globin complex on 16p: evidence for locus homogeneity. Am J Hum Genet 51: 1349–1354

    Google Scholar 

  • Thompson EA (1987) Crossover counts and likelihood in multipoint linkage analysis. IMA J Math Appl Med Biol 4: 93–108

    Google Scholar 

  • Van der Meer JWM, Vossen JM, Radl J, Van Nieuwkoop JA, Meyer CJEM, Eobatto S, Van Furth R (1984) Hyperimmuno-globulinemia D and periodic fever: a new syndrome. Lancet I: 1087–1090

    Google Scholar 

  • Weber JE, May PE (1989) Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am J Hum Genet 44: 388–396

    CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Consortia

Additional information

Participants listed in the appendix

Rights and permissions

Reprints and permissions

About this article

Cite this article

Drenth, J.P.H., Mariman, E.C.M., Van der Velde-Visser, S.D. et al. Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever. Hum Genet 94, 616–620 (1994). https://doi.org/10.1007/BF00206953

Download citation

  • Received:

  • Revised:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00206953

Keywords

Navigation