Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion

J Clin Immunol. 2024 Apr 27;44(5):108. doi: 10.1007/s10875-024-01707-8.

Abstract

The monogenic causes of very-early-onset inflammatory bowel disease (VEO-IBD) have been defined by genetic studies, which were usually related to primary immunodeficiencies. Receptor-interacting serine/threonine-protein kinase-1 (RIPK1) protein is an important signalling molecule in inflammation and cell death pathways. Its deficiency may lead to various clinical features linked to immunodeficiency and/or inflammation, including IBD. Here, we discuss an infant with malnutrition, VEO-IBD, recurrent infections and polyathritis who has a homozygous partial deletion in RIPK1 gene.

Keywords: Immunodefciency; Inflammation; Very-early Onset Inflammatory Bowel Disease.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Gene Deletion*
  • Humans
  • Infant
  • Inflammatory Bowel Diseases* / diagnosis
  • Inflammatory Bowel Diseases* / genetics
  • Male
  • Receptor-Interacting Protein Serine-Threonine Kinases* / deficiency
  • Receptor-Interacting Protein Serine-Threonine Kinases* / genetics

Substances

  • RIPK1 protein, human