Very-Early Onset Chronic Active Colitis with Heterozygous Variants in LRBA1 and CARD11, a Case of "Immune TOR-Opathies".
Fetal Pediatr Pathol
; 42(2): 297-306, 2023 Apr.
Article
em En
| MEDLINE
| ID: mdl-35748740
ABSTRACT
BACKGROUND:
A small subset of cases of inflammatory bowel disease (IBD) occurs as a result of single gene defects, and typically occurs in young or very young pediatric patients, referred to as "monogenic very-early onset IBD (VEO-IBD)". The gene variants leading to monogenic VEO-IBD are often associated with primary immunodeficiency syndromes. CASE REPORT A six year-old girl presented to our gastroenterology clinic with LRBA deficiency with a heterozygous mutation at c.1399 A > G, p Met467Val, histopathologic chronic active colitis without granulomas and clinical chronic colitis. Her gastrointestinal symptoms began at age 5 with bloody diarrhea, abdominal pain and weight loss. Whole exome sequencing revealed a CARD11 heterozygous de novo mutation (c.220 + 1G > A). She was in clinical remission on only abatacept.DISCUSSION:
We present a case of monogenic VEO-IBD associated with two heterozygous variants in LRBA1 and CARD11, both considered as key players in the newly proposed "immune TOR-opathies".Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças Inflamatórias Intestinais
/
Colite
Limite:
Child
/
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Fetal Pediatr Pathol
Assunto da revista:
PATOLOGIA
/
PEDIATRIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos