Multiple endocrine neoplasia and very early onset inflammatory bowel disease. An unexpected association
MEDICINA-BUENOS AIRES(2024)
摘要
Very early onset inflammatory bowel disease (VEOIBD) is a rare entity in pediatrics. Its association with primary immunodeficiencies of monogenic origin is known. We present the case of a patient diagnosed with VEOIBD who underwent massive paralleled exome sequencing. The result of the study showed a pathogenic variant in the RET proto-oncogene, associated with multiple endocrine neoplasia type 2A disease. There are no previous reports of association of RET proto-oncogene variants with VEOIBD. The presence of these two clinical entities cannot be attributed to a single genetic cause.
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关键词
very early onset inflammatory bowel dis ease,RET proto-oncogene,multiple endocrine neoplasia 2A,primary immunodeficiency
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