Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004135 (ATM)
13,001 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ataxia-telangiectasia and sarcoidosis are diseases characterized by abnormalities of the immune system. We examined a 13-year-old female with ataxia-telangiectasia who developed atrophic, violaceous plaques of the skin and a destructive, polyarticular arthritis. The histologic features of both skin and synovium were most consistent with a diagnosis of sarcoidosis. Interaction of these two immunologic disorders may have resulted in the unusual features of this patient's disease.
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PMID:Ataxia-telangiectasia associated with sarcoidosis. 377 55