title: Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?
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.
authors.affiliation: Interdisziplinäre Kinder-Intensivstation, Charité-Universitätsmedizin, Berlin, Germany. susanne.reich@charite.de
authors.forename: Susanne
authors.initials: S
authors.lastname: Reich
authors.forename: Rolf
authors.initials: R
authors.lastname: Keitzer
authors.forename: Reinhold E
authors.initials: RE
authors.lastname: Schmidt
authors.forename: Roland
authors.initials: R
authors.lastname: Jacobs
authors.forename: Verena
authors.initials: V
authors.lastname: Varnholt
authors.forename: Dietke
authors.initials: D
authors.lastname: Buck
authors.forename: Ralf
authors.initials: R
authors.lastname: Herold
authors.forename: Harald
authors.initials: H
authors.lastname: Renz
mesh_terms: D000015:Abnormalities, Multiple; D016115:Albinism, Oculocutaneous / Q000276:immunology; D002648:Child; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D007694:Killer Cells, Natural / Q000276:immunology*