Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.
Abatacept
/ therapeutic use
Adaptor Proteins, Signal Transducing
/ deficiency
Biomarkers
Biopsy
Child, Preschool
Diabetes Mellitus, Type 1
/ diagnosis
Disease Management
Disease Susceptibility
Drug Resistance
Endoscopes, Gastrointestinal
Gastric Mucosa
/ immunology
Gastritis
/ diagnosis
Humans
Immunosuppressive Agents
/ therapeutic use
Male
Retreatment
Treatment Outcome
LRBA deficiency
abatacept
autoimmune gastritis
case report
inflammatory bowel disease
lymphoproliferation
primary immumunodeficiencies
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2021
2021
Historique:
received:
19
10
2020
accepted:
04
02
2021
entrez:
15
3
2021
pubmed:
16
3
2021
medline:
6
7
2021
Statut:
epublish
Résumé
Primary immunodeficiency (PID) with immune dysregulation may present with early onset gastrointestinal autoimmune disorders. When gastrointestinal autoimmunity is associated with multiple extraintestinal immune system dysfunction the diagnosis of PID is straightforward. However, with the advent of next generation sequencing technologies, genetic defects in PID genes have been increasingly recognized even when a single or no extraintestinal signs of immune dysregulation are present. A genetic diagnosis is especially important considering the expanding armamentarium of therapies designed to inhibit specific molecular pathways. We describe a boy with early-onset severe, refractory autoimmune gastritis and biallelic mutations in the
Identifiants
pubmed: 33717114
doi: 10.3389/fimmu.2021.619246
pmc: PMC7952427
doi:
Substances chimiques
Adaptor Proteins, Signal Transducing
0
Biomarkers
0
Immunosuppressive Agents
0
Abatacept
7D0YB67S97
LRBA protein, human
EC 2.7.10.-
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
619246Informations de copyright
Copyright © 2021 Boz, Valencic, Girardelli, Pin, Gàmez-Diaz, Tommasini, Lega and Bramuzzo.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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