Abstract

ROSSI, Santiago I. et al. Multiple endocrine neoplasia and very early onset in flammatory bowel disease. An unexpected association. Medicina (B. Aires) [online]. 2024, vol.84, n.2, pp.347-350. ISSN 0025-7680.

Very early onset inflammatory bowel disease (VEOI BD) is a rare entity in pediatrics. Its association with pri mary 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 endo crine 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.

Keywords : Very early onset inflammatory bowel dis ease; RET proto-oncogene; Multiple endocrine neoplasia 2A; Primary immunodeficiency.

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