Oculocutaneous albinism accompanied by minor morphologic stigmata and reduced number and function of NK cells. A new variant of NK cell defect?
Eur J Pediatr
; 167(10): 1175-82, 2008 Oct.
Article
em En
| MEDLINE
| ID: mdl-18202852
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
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Células Matadoras Naturais
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Albinismo Oculocutâneo
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Síndromes de Imunodeficiência
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2008
Tipo de documento:
Article