TY - JOUR
T1 - Candidiasis–endocrinopathy syndrome with progressive myopathy
AU - Evans, Richard A.
AU - Carter, John N.
AU - Shenston, Bain
AU - Smith, Arabella
AU - Hills, Ellen
AU - Walls, Ronald
AU - Corbett, Alistair
PY - 1989/2
Y1 - 1989/2
N2 - A women suffering from the candidiasis-endocrinopathy syndrome, developed severe myopathy in her fourth decade and died from it at the age of 37 years. Associated conditions were hypoparathyroidism, vitiligo, chronic mucocutaneous candidiasis, short stature, intellectual disability, ovarian failure and alopecia totalis. Muscle biopsy findings were non-specific with focal atrophy of type 2 fibres. Serum immunoglobulin levels were normal. The only demonstrable abnormalities of her immune system were impaired T-cell function and antibody production by B-cells (detectable to smooth muscle, mitochondria and gastric parietal cells). The T-cell abnormality may have been part of a more generalized cell defect, resulting from an unidentified genetic abnormality, whilst the circulating antibodies could have been a response to tissue damage. There was no convincing evidence of primary autoimmune damage.
AB - A women suffering from the candidiasis-endocrinopathy syndrome, developed severe myopathy in her fourth decade and died from it at the age of 37 years. Associated conditions were hypoparathyroidism, vitiligo, chronic mucocutaneous candidiasis, short stature, intellectual disability, ovarian failure and alopecia totalis. Muscle biopsy findings were non-specific with focal atrophy of type 2 fibres. Serum immunoglobulin levels were normal. The only demonstrable abnormalities of her immune system were impaired T-cell function and antibody production by B-cells (detectable to smooth muscle, mitochondria and gastric parietal cells). The T-cell abnormality may have been part of a more generalized cell defect, resulting from an unidentified genetic abnormality, whilst the circulating antibodies could have been a response to tissue damage. There was no convincing evidence of primary autoimmune damage.
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U2 - 10.1093/oxfordjournals.qjmed.a068307
DO - 10.1093/oxfordjournals.qjmed.a068307
M3 - Article
C2 - 2594954
AN - SCOPUS:0024573473
SN - 1460-2393
VL - 70
SP - 139
EP - 144
JO - QJM: an international journal of medicine
JF - QJM: an international journal of medicine
IS - 2
ER -