ArticleJournal of clinical immunology2016
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation.
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 47 citations in OpenAlex.
- Clinical and genomic features of Iranian patients with very early onset IBD.Pediatric research · 2026Article
- Stem Cell Therapy for Inflammatory Diseases: Progress, Challenges, and Future Directions.MedComm · 2026Review
- Case Report: Severe gastric atrophy associated with a novel homozygous variant inFrontiers in pediatrics · 2025Article
- Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning.Journal of clinical 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
- Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.BMC pediatrics · 2023Review
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- Acute Cervical Longitudinally Extensive Transverse Myelitis in a Child With Lipopolysaccharide-Responsive-Beige-Like-Anchor-Protein (LRBA) Deficiency: A New Complication of a Rare Disease.Frontiers in pediatrics · 2020Article
- Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.Frontiers in pediatrics · 2019Review
- Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.The Journal of allergy and clinical immunology · 2018Article
- Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.European journal of pediatrics · 2018Article
- The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies.Journal of clinical immunology · 2018Review
- Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.Journal of clinical immunology · 2018Article
- Assessing Disease Severity in Common Variable Immunodeficiency Disorders (CVID) and CVID-Like Disorders.Frontiers in immunology · 2018Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.Frontiers in immunology · 2018Article
- Multiple Presentations of LRBA Deficiency: a Single-Center Experience.Journal of clinical immunology · 2017Article
- Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation.Immunology and cell biology · 2017Article
- Recessively InheritedDiabetes · 2017Article
- Multifocal gastric adenocarcinoma in a patient with LRBA deficiency.Orphanet journal of rare diseases · 2017Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeAutosomal recessive mutations in LRBA, encoding for LPS-responsive beige-like anchor protein, were described in patients with a common variable immunodeficiency (CVID)-like disease characterized by hypogammaglobulinemia, autoimmune cytopenias, and enteropathy. Here, we detail the clinical, immunological, and genetic features of a patient with severe autoimmune manifestations.
methodsWhole exome sequencing was performed to establish a molecular diagnosis. Evaluation of lymphocyte subsets was performed for immunological characterization. Medical files were reviewed to collect clinical and immunological data.
resultsA 7-year-old boy, born to consanguineous parents, presented with autoimmune hemolytic anemia, hepatosplenomegaly, autoimmune thyroiditis, and severe autoimmune gastrointestinal manifestations. Immunological investigations revealed low immunoglobulin levels and low numbers of B and NK cells. Treatment included immunoglobulin replacement and immunosuppressive therapy. Seven years after disease onset, the patient developed severe neurological symptoms resembling acute disseminated encephalomyelitis, prompting allogeneic hematopoietic stem cell transplantation (HSCT) with the HLA-identical mother as donor. Whole exome sequencing of the patient uncovered a homozygous 1 bp deletion in LRBA (c.7162delA:p.T2388Pfs*7). Importantly, during 2 years of follow-up post-HSCT, marked clinical improvement and recovery of immune function was observed.
conclusionsOur data suggest a beneficial effect of HSCT in patients with LRBA deficiency.
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