Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl

Eur J Pediatr. 2007 Oct;166(10):1069-70. doi: 10.1007/s00431-006-0345-3. Epub 2007 Jan 4.

Authors

Martin Chalumeau¹, Dominique Monnet, Antoine P Brézin, Dominique Gendrel, Jean-Laurent Casanova, Bénédicte Gérard, Sylvie Chollet-Martin

Affiliation

¹ Department of Pediatrics, Saint-Vincent-de-Paul Hospital, AP-HP, Université Paris-Descartes, 74-82 Avenue Denfert-Rochereau, 75014, Paris, France. [email protected]

PMID: 17203282
DOI: 10.1007/s00431-006-0345-3

No abstract available

Publication types

Case Reports

MeSH terms

Child
Chorioretinitis / diagnosis
Chorioretinitis / etiology*
Codon, Nonsense
Female
Granulomatous Disease, Chronic / complications*
Granulomatous Disease, Chronic / genetics
Humans
NADPH Oxidases / genetics*
Visual Acuity / genetics

Substances

Codon, Nonsense
NADPH Oxidases
neutrophil cytosolic factor 1