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European Journal of Pediatrics
Published in: European Journal of Pediatrics 10/2007

01-10-2007 | Short Report

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

Authors: Martin Chalumeau, Dominique Monnet, Antoine P. Brézin, Dominique Gendrel, Jean-Laurent Casanova, Bénédicte Gérard, Sylvie Chollet-Martin

Published in: European Journal of Pediatrics | Issue 10/2007

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Excerpt

Chronic granulomatous disease (CGD) is due to the defective oxidative burst of phagocytes. Severe, occasionally fatal, infections result from an inadequate response to bacteria and fungi [4], and inflammatory lesions of many organs may also be observed. We report the first case of a patient with severe chorioretinal lesions as the unique feature of complete CGD that was associated with a homozygous nonsense G591A mutation. …
Literature
1.
Goldblatt D, Butcher J, Thrasher AJ, Russell-Eggitt I (1999) Chorioretinal lesions in patients and carriers of chronic granulomatous disease. J Pediatr 134:780–783PubMedCrossRef
2.
Heyworth PG, Cross AR, Curnutte JT (2003) Chronic granulomatous disease. Curr Opin Immunol 15:578–584PubMedCrossRef
3.
Kim SG, Kim JG, Yu YS (2003) Chorioretinal lesions in patients with chronic granulomatous disease. Retina 23:360–365PubMedCrossRef
4.
Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM (2000) Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine 79:170–200PubMedCrossRef
Metadata
Title
Chorioretinal lesions as the unique feature of complete chronic granulomatous disease in an 8-year-old girl
Authors
Martin Chalumeau
Dominique Monnet
Antoine P. Brézin
Dominique Gendrel
Jean-Laurent Casanova
Bénédicte Gérard
Sylvie Chollet-Martin
Publication date
01-10-2007
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 10/2007
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-006-0345-3

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