Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.
Immunodefciency
Inflammation
Very-early Onset Inflammatory Bowel Disease
Journal
Journal of clinical immunology
ISSN: 1573-2592
Titre abrégé: J Clin Immunol
Pays: Netherlands
ID NLM: 8102137
Informations de publication
Date de publication:
27 Apr 2024
27 Apr 2024
Historique:
received:
23
06
2023
accepted:
10
04
2024
medline:
28
4
2024
pubmed:
28
4
2024
entrez:
27
4
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 38676845
doi: 10.1007/s10875-024-01707-8
pii: 10.1007/s10875-024-01707-8
doi:
Substances chimiques
Receptor-Interacting Protein Serine-Threonine Kinases
EC 2.7.11.1
RIPK1 protein, human
EC 2.7.11.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
108Informations de copyright
© 2024. The Author(s).
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