Journal of Clinical Immunology

, Volume 22, Issue 4, pp 237–243

Griscelli Disease: Genotype–Phenotype Correlation in an Array of Clinical Heterogeneity

  • Ozden Sanal
  • Fúgen Ersoy
  • Ilhan Tezcan
  • Ayşe Metin
  • Leman Yel
  • Gaël Ménasché
  • Aytemiz Gürgey
  • Izzet Berkel
  • Geneviève de Saint Basile
Article

DOI: 10.1023/A:1016045026204

Cite this article as:
Sanal, O., Ersoy, F., Tezcan, I. et al. J Clin Immunol (2002) 22: 237. doi:10.1023/A:1016045026204

Abstract

Griscelli disease is a rare autosomal recessive disorder characterized by diffuse pigmentary dilution and occurrence of acute phases of uncontrolled lymphocyte and macrophage activation, so-called “hemophagocytic syndrome” (HS) that leads to death. Recently, two closely linked genes located on human 15q21 region have been found to be responsible for the disease. We present clinical and laboratory findings of 13 unrelated patients with Griscelli disease as well as mutation analyses in an effort to define a genotype–phenotype correlation. Eight patients who showed RAB27A mutations presented with HS. In contrast, two patients who primarily presented with a neurological impairment in the absence of infection susceptibility or HS were found to have homozygous MYO5A mutations. No mutation in RAB27A could be detected in the other three patients. One of the latter developed HS at a rather late age, while the other two are free of HS at 12 and 15 years of age. Griscelli disease presents with a heterogeneous clinical picture that seems to reflect the involved gene defect. This genotype–phenotype correlation suggests that the natural course of the disease and outcome is dictated by the site and type of the genetic mutation.

Griscelli diseaseclinical heterogeneityRAB27A geneMYO5A gene

Copyright information

© Plenum Publishing Corporation 2002

Authors and Affiliations

  • Ozden Sanal
    • 1
  • Fúgen Ersoy
    • 1
  • Ilhan Tezcan
    • 1
  • Ayşe Metin
    • 1
  • Leman Yel
    • 2
  • Gaël Ménasché
    • 3
  • Aytemiz Gürgey
    • 4
  • Izzet Berkel
    • 1
  • Geneviève de Saint Basile
    • 3
  1. 1.İhsan Doğramacı Children’s Hospital, Immunology DivisionHacettepe UniversityAnkaraTurkey
  2. 2.Department of Medicine, Basic and Clinical Immunology DivisionUniversity of CaliforniaIrvineCalifornia
  3. 3.Unité d’Immunologie et d’Hématologie PédiatriqueHôpital Necker Enfants MaladesParis Cedex 15France
  4. 4.İhsan Doğramacı Children’s Hospital, Hematology DivisionHacettepe UniversityAnkaraTurkey