Abstract
We report on a child with a family history of autoimmune defects, who presented at the age of 3 1/2 years with alopecia and Graves disease. He subsequently developed vitiligo and psoriasis. At 9 1/2 years, he developed an autoimmune form of Lambert-Eaton Myasthenic syndrome (LEMS) with a significant elevation of glutamic acid decarboxylase (GAD) autoantibodies. Shortly thereafter he developed chronic urticaria. HLA associations were present for Graves disease, vitiligo, psoriasis, and IgA deficiency. There was also evidence of autoimmunity involving the pancreatic islet cells and gastric parietal cells.
Original language | English (US) |
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Pages (from-to) | 77-80 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 119 A |
Issue number | 1 |
DOIs | |
State | Published - May 15 2003 |
Keywords
- Autoimmune polyglandular syndrome
- GAD autoantibody
- Graves disease
- HLA
- Lambert-Eaton Myasthenic syndrome
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)