Login / Signup

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

Ceyda Tuna KırsaçlıoğluAlexandra FrohneZarife KuloğluIsidora KristofersdottirEngin DemirCansu AltuntaşZehra Şule HaskoloğluFatma Nazan ÇobanoğluTanıl KendirliHalil OzdemirZeynep Birsin ÖzçakarBerna SavaşFigen DoğuAydan İkincioğullarıKaan BoztugAydan Kansu
Published in: Journal of clinical immunology (2024)
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.
Keyphrases
  • early onset
  • protein kinase
  • ulcerative colitis
  • cell death
  • late onset
  • oxidative stress
  • genome wide
  • copy number
  • binding protein
  • gene expression
  • protein protein
  • dna methylation
  • case control
  • amino acid