ArticleJournal of clinical immunology2019
A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.
Article in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Comprehensive comparison between 222 CTLA-4 haploinsufficiency and 212 LRBA deficiency patients: a systematic review.Clinical and experimental immunology · 2021Pooled it
- Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.Frontiers in immunology · 2021Pooled it
- Clinical Spectrum and Therapeutic Options in Monogenic CTLA-4-, LRBA-, or SOCS1-Related Primary Immune Regulatory Disorders.The journal of allergy and clinical immunology. In practice · 2026Review
- Case Report: Different faces of LRBA deficiency in five Moroccan families.Frontiers in immunology · 2026Article
- Loss-of-function of lipopolysaccharide-responsive beige-like anchor protein causes inflammatory bowel disease-a case report and literature review.Translational pediatrics · 2025Article
- Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Journal of clinical immunology · 2024Article
- Infections in Disorders of Immune Regulation.Pathogens (Basel, Switzerland) · 2024Review
- False Negative Next-Generation-Sequencing Analysis in a Lipopolysa ccharide-Responsive Beige-Like Anchor Defect.Turkish archives of pediatrics · 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
- Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?HemaSphere · 2023Article
- Review
- Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022Article
- Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.Frontiers in immunology · 2022Review
- Regulatory T Cells: Angels or Demons in the Pathophysiology of Sepsis?Frontiers in immunology · 2022Review
- Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: An intriguing challenge.Clinical and experimental immunology · 2021Review
- Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.Biomedical journal · 2021Review
- Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.World journal of clinical cases · 2021Article
- Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge.Frontiers in pediatrics · 2021Article
- Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency.Frontiers in immunology · 2021Article
Corrections and comments
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Authors and funding
23 authors at 6 institutions in 4 countries.
Funding
Abstract
introductionAutosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). The aim of this study was to compare patients with LRBA-related ALPS and LRBA-related CVID, to describe their clinical and laboratory phenotypes, and to prepare an algorithm for their diagnosis and management.
methodsFifteen LRBA-deficient patients were identified among 31 CVID and 14 possible ALPS patients with Western blotting (WB), primary immunodeficiency disease (PIDD) gene, next-generation panel screening (NGS), and whole exome sequencing (WES).
resultsThe median age on admission and age of diagnosis were 7 years (0.3-16.5) and 11 years (5-44), respectively. Splenomegaly was seen in 93.3% (14/15) of the patients on admission. Splenectomy was performed to 1/5. Recurrent upper respiratory tract infections (93.3% (14/15)), autoimmune cytopenia (80% (12/15)), chronic diarrhea (53.3% (8/15)), lower respiratory tract infections (53.3% (8/15)), lymphoma (26.6% (4/15)), Evans syndrome (26.6% (4/15)), and autoimmune thyroiditis (20% (3/15)) were common clinical findings and diseases. Lymphopenia (5/15), intermittant neutropenia (4/15), eosinophilia (4/15), and progressive hypogammaglobulinemia are recorded in given number of patients. Double negative T cells (TCRαβ
conclusionPatients with LRBA deficiency may initially be diagnosed as CVID or ALPS in the clinical practice. Progressive decrease in B cells as well as IgG in ALPS-like patients and addition of IBD symptoms in the follow-up should raise the suspicion for LRBA deficiency. Decreased switched memory B cells, decreased naive and recent thymic emigrant (RTE) Th cells, and markedly increased effector memory/effector memory RA
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Registered trials
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