ArticleFrontiers in immunology2021
Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.
Article in Frontiers in immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.Clinical and experimental immunology · 2026Article
- Congenital T-cell activation impairs transitional-to-follicular B-cell maturation in humans.Blood advances · 2025Article
- Case Report: Severe gastric atrophy associated with a novel homozygous variant inFrontiers in pediatrics · 2025Article
- Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance inWorld journal of clinical cases · 2023Article
- Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment.Biomedicines · 2023Article
- Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes.World journal of clinical pediatrics · 2022Review
- Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report.Frontiers in immunology · 2022Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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
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