European Journal of Pediatrics

, Volume 167, Issue 10, pp 1175–1182 | Cite as

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

  • Susanne Reich
  • Rolf Keitzer
  • Reinhold E. Schmidt
  • Roland Jacobs
  • Verena Varnholt
  • Dietke Buck
  • Ralf Herold
  • Harald Renz
Original Paper


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.


Oculocutaneous albinism Dysmorphic features Immunodeficiency Natural killer cell deficiency Defect in NK-cell mediated cytotoxic activity 



Granulozyte colony stimulating factor




Epstein Barr virus


Total hemolytic complement activity


Cells natural killer cells




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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Susanne Reich
    • 1
    • 7
  • Rolf Keitzer
    • 2
  • Reinhold E. Schmidt
    • 3
  • Roland Jacobs
    • 3
  • Verena Varnholt
    • 4
  • Dietke Buck
    • 2
  • Ralf Herold
    • 5
  • Harald Renz
    • 6
  1. 1.Interdisziplinäre Kinder-IntensivstationCharité-UniversitätsmedizinBerlinGermany
  2. 2.Pädiatrische Pneumologie/ImmunologieCharité-UniversitätsmedizinBerlinGermany
  3. 3.Klinische ImmunologieMedizinische HochschuleHannoverGermany
  4. 4.Allgemeine PädiatrieCharité-UniversitätsmedizinBerlinGermany
  5. 5.Pädiatrische Hämatologie/OnkologieCharité-UniversitätsmedizinBerlinGermany
  6. 6.Klinische Chemie und Molekulare DiagnostikPhilipps UniversitätMarburgGermany
  7. 7.Klinik für KinderchirurgieCharité-Universitätsmedizin BerlinBerlinGermany

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