ArticleFrontiers in immunology2017
Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency.
Article in Frontiers in immunology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 31 citations in OpenAlex.
- Stem Cell Therapy for Inflammatory Diseases: Progress, Challenges, and Future Directions.MedComm · 2026Review
- Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.Translational pediatrics · 2025Article
- Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis.The Journal of cell biology · 2024Article
- Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning.Journal of clinical immunology · 2024Article
- Case report: A case of novel homozygous LRBA variant induced by chromosomal segmental uniparental disomy - genetic and clinical insights.Frontiers in immunology · 2024Article
- An efficient and successful outcome after haematopoietic stem cell transplantation in a patient with an LPS-responsive beige-like anchor gene mutation.Frontiers in pediatrics · 2024Article
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- Vitiligo following stem-cell transplant.Bone marrow transplantation · 2020Review
- Intrauterine IPEX.Frontiers in pediatrics · 2020Review
- Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders.Frontiers in pediatrics · 2019Review
- Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.Frontiers in pediatrics · 2019Review
- The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies.Journal of clinical immunology · 2018Review
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients.Molecular genetics and metabolism reports · 2017Article
- Immunological phenotype of the murine Lrba knockout.Immunology and cell biology · 2017Article
- Long-term follow-up of patients with LPS-responsive beige-like anchor protein deficiency after reduced-intensity conditioning for allogeneic hematopoietic stem cell transplantation: report of two cases.Hematology, transfusion and cell therapyArticle
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inflammatory bowel disease (IBD) in young children can be a clinical manifestation of various primary immunodeficiency syndromes. Poor clinical outcome is associated with poor quality of life and high morbidity from the complications of prolonged immunosuppressive treatment and malabsorption. In 2012, mutations in the lipopolysaccharide-responsive beige-like anchor (LRBA) gene were identified as the cause of an autoimmunity and immunodeficiency syndrome. Since then, several LRBA-deficient patients have been reported with a broad spectrum of clinical manifestations without reliable predictive prognostic markers. Allogeneic hematopoietic stem cell transplantation (alloHSCT) has been performed in a few severely affected patients with complete or partial response. Herein, we present a detailed course of the disease and the transplantation procedure used in a LRBA-deficient patient suffering primarily from infantile IBD with immune enteropathy since the age of 6 weeks, and progressive autoimmunity with major complications following long-term immunosuppressive treatment. At 12 years of age, alloHSCT using bone marrow of a fully matched sibling donor-a healthy heterozygous LRBA mutant carrier-was performed after conditioning with a reduced-intensity regimen. During the 6-year follow-up, we observed a complete remission of enteropathy, autoimmunity, and skin vitiligo, with complete donor chimerism. The genetic diagnosis of LRBA deficiency was made post-alloHSCT by detection of two compound heterozygous mutations, using targeted sequencing of DNA samples extracted from peripheral blood before the transplantation.
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