Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease

G R Yeaman; K Froebel; G Galea; Anthony Ormerod; Stanislaw Urbaniak

doi:10.1111/j.1365-2133.1992.tb08405.x

Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease

G R Yeaman, K Froebel, G Galea, Anthony Ormerod, Stanislaw Urbaniak

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

Abstract

A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.

Original language	English
Pages (from-to)	60-65
Number of pages	6
Journal	British Journal of Dermatology
Volume	126
Issue number	1
DOIs	https://doi.org/10.1111/j.1365-2133.1992.tb08405.x
Publication status	Published - 1 Jan 1992

Keywords

Adolescent
Cytochrome b Group
Female
Glucosephosphate Dehydrogenase Deficiency
Granulomatous Disease, Chronic
Heterozygote
Heterozygote Detection
Humans
Luminescent Measurements
Lupus Erythematosus, Discoid
Neutrophils
Nitroblue Tetrazolium

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10.1111/j.1365-2133.1992.tb08405.x

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title = "Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease",

abstract = "A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.",

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T1 - Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease

AU - Yeaman, G R

AU - Froebel, K

AU - Galea, G

AU - Ormerod, Anthony

AU - Urbaniak, Stanislaw

PY - 1992/1/1

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N2 - A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.

AB - A 13-year-old female presented with photosensitivity, recurrent aphthous ulcers and discoid lupus erythematosus (DLE)-like skin lesions. These symptoms have been linked to the carrier status of chronic granulomatous disease (CGD). Neutrophil (PMN) function was investigated by nitroblue tetrazolium reduction test and chemiluminescence. A severe impairment of PMN oxidative burst activity was revealed in spite of supranormal levels of cytochrome b245. Glucose-6-phosphate dehydrogenase activity was deficient. Her mother and two sisters also showed reduced PMN function. These findings are consistent with a cytochrome positive X-linked form of CGD with variable lyonization. DLE in association with the carrier status of this CGD variant has not been reported previously.

KW - Adolescent

KW - Cytochrome b Group

KW - Female

KW - Glucosephosphate Dehydrogenase Deficiency

KW - Granulomatous Disease, Chronic

KW - Heterozygote

KW - Heterozygote Detection

KW - Humans

KW - Luminescent Measurements

KW - Lupus Erythematosus, Discoid

KW - Neutrophils

KW - Nitroblue Tetrazolium

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DO - 10.1111/j.1365-2133.1992.tb08405.x

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SP - 60

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JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 1

ER -

Discoid lupus erythematosus in an X-linked cytochrome-positive carrier of chronic granulomatous disease

Abstract

Keywords

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