Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.
J Clin Immunol
; 44(5): 108, 2024 Apr 27.
Article
em En
| MEDLINE
| ID: mdl-38676845
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Inflamatórias Intestinais
/
Deleção de Genes
/
Proteína Serina-Treonina Quinases de Interação com Receptores
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
J Clin Immunol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Turquia