European Journal of Pediatrics

, Volume 167, Issue 10, pp 1175–1182

Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?

Authors

    • Interdisziplinäre Kinder-IntensivstationCharité-Universitätsmedizin
    • Klinik für KinderchirurgieCharité-Universitätsmedizin Berlin
  • Rolf Keitzer
    • Pädiatrische Pneumologie/ImmunologieCharité-Universitätsmedizin
  • Reinhold E. Schmidt
    • Klinische ImmunologieMedizinische Hochschule
  • Roland Jacobs
    • Klinische ImmunologieMedizinische Hochschule
  • Verena Varnholt
    • Allgemeine PädiatrieCharité-Universitätsmedizin
  • Dietke Buck
    • Pädiatrische Pneumologie/ImmunologieCharité-Universitätsmedizin
  • Ralf Herold
    • Pädiatrische Hämatologie/OnkologieCharité-Universitätsmedizin
  • Harald Renz
    • Klinische Chemie und Molekulare DiagnostikPhilipps Universität
Original Paper

DOI: 10.1007/s00431-007-0657-y

Cite this article as:
Reich, S., Keitzer, R., Schmidt, R.E. et al. Eur J Pediatr (2008) 167: 1175. doi:10.1007/s00431-007-0657-y

Abstract

We describe the case of a 7-year-old girl with an apparently new genetic disorder characterized by oculocutaneous albinism, microcephaly, low-set helices, a prominent nose with a broad bridge, a long philtrum, a thin upper lip, a short neck, brachydactyly of the hands and syndactyly between the second and third toes of both feet, thrombocytopenia, and granulocytopenia. In addition, she had extremely low amounts of natural killer cells that were phenotypically normal but lacking cytotoxic activities. Clinically this defect was associated with recurrent and severe respirator-dependent pneumonia of viral and bacterial origin. We assume that the girl presented here represents a similar but distinct entity to the previously described syndromes involving oculocutaneous albinism.

Keywords

Oculocutaneous albinismDysmorphic featuresImmunodeficiencyNatural killer cell deficiencyDefect in NK-cell mediated cytotoxic activity

Abbreviations

G-CSF

Granulozyte colony stimulating factor

Ig

Immunoglobuline

EBV

Epstein Barr virus

CH50

Total hemolytic complement activity

NK

Cells natural killer cells

HPS

Hermansky-Pudlak-syndrome

Copyright information

© Springer-Verlag 2007