Research & Literature

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Revel-Vilk S, Fischer U, Keller B, et al.

Clinical immunology (Orlando, Fla.) 2015; (159(1)):84-92.

AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy.

Lo B, Zhang K, Lu W, et al.

Science (New York, N.Y.) 2015; (349(6246)):436-40 doi:10.1126/science.aaa1663.

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

Schreiner F, Plamper M, Dueker G, et al.

The Journal of clinical endocrinology and metabolism 2016; (101(3)):898-904 doi:10.1210/jc.2015-3382.

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

Gámez-Díaz L, August D, Stepensky P, et al.

The Journal of allergy and clinical immunology 2016; (137(1)):223-230 doi:10.1016/j.jaci.2015.09.025.

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Lévy E, Stolzenberg MC, Bruneau J, et al.

Clinical immunology (Orlando, Fla.) 2016; (168()):88-93 doi:10.1016/j.clim.2016.03.006.

Atypical Manifestation of LPS-Responsive Beige-Like Anchor Deficiency Syndrome as an Autoimmune Endocrine Disorder without Enteropathy and Immunodeficiency.

Bakhtiar S, Ruemmele F, Charbit-Henrion F, et al.

Frontiers in pediatrics 2016; (4()):98 doi:10.3389/fped.2016.00098.

Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.

Azizi G, Abolhassani H, Mahdaviani SA, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2017; (28(5)):478-484 doi:10.1111/pai.12735.

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation.

Alroqi FJ, Charbonnier LM, Baris S, et al.

The Journal of allergy and clinical immunology 2018; (141(3)):1050-1059.e10 doi:10.1016/j.jaci.2017.05.022.

New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency.

Azizi G, Abolhassani H, Yazdani R, et al.

European annals of allergy and clinical immunology 2017; (49(5)):235-239 doi:10.23822/EurAnnACI.1764-1489.22.

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

Kostel Bal S, Haskologlu S, Serwas NK, et al.

Journal of clinical immunology 2017; (37(8)):790-800 doi:10.1007/s10875-017-0446-y.

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.

Gámez-Díaz L, Sigmund EC, Reiser V, et al.

Frontiers in immunology 2018; (9()):720 doi:10.3389/fimmu.2018.00720.

Respiratory manifestations in LPS-responsive beige-like anchor (LRBA) protein-deficient patients.

Shamriz O, Shadur B, NaserEddin A, et al.

European journal of pediatrics 2018; (177(8)):1163-1172 doi:10.1007/s00431-018-3171-5.

The profile of IL-4, IL-5, IL-10 and GATA3 in patients with LRBA deficiency and CVID with no known monogenic disease: Association with disease severity.

Azizi G, Bagheri Y, Yazdani R, et al.

Allergologia et immunopathologia 2019; (47(2)):172-178 doi:10.1016/j.aller.2018.06.003.

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Soler-Palacín P, Garcia-Prat M, Martín-Nalda A, et al.

Frontiers in immunology 2018; (9()):2397 doi:10.3389/fimmu.2018.02397.

Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.

Eren Akarcan S, Edeer Karaca N, Aksu G, et al.

JMM case reports 2018; (5(10)):e005167 doi:10.1099/jmmcr.0.005167.

Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency.

Cepika AM, Sato Y, Liu JM, et al.

The Journal of allergy and clinical immunology 2018; (142(6)):1679-1695 doi:10.1016/j.jaci.2018.10.026.

Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review.

Habibi S, Zaki-Dizaji M, Rafiemanesh H, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(7)):2379-2386.e5 doi:10.1016/j.jaip.2019.04.011.

Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.

Kiykim A, Ogulur I, Dursun E, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(8)):2790-2800.e15 doi:10.1016/j.jaip.2019.06.011.

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects.

Cagdas D, Halaçlı SO, Tan Ç, et al.

Journal of clinical immunology 2019; (39(7)):726-738 doi:10.1007/s10875-019-00677-6.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

Tesch VK, Abolhassani H, Shadur B, et al.

The Journal of allergy and clinical immunology 2020; (145(5)):1452-1463 doi:10.1016/j.jaci.2019.12.896.

Novel compound heterozygous stop-gain mutations of LRBA in a Vietnamese patient with Common Variable Immune Deficiency.

Phan ANL, Pham TTT, Huynh N, et al.

Molecular genetics & genomic medicine 2020; (8(5)):e1216 doi:10.1002/mgg3.1216.

Case Report: Exome Sequencing Reveals LRBA Deficiency in a Patient With End-Stage Renal Disease.

Taylan C, Wenzel A, Erger F, et al.

Frontiers in pediatrics 2020; (8()):42 doi:10.3389/fped.2020.00042.

Delivery of subcutaneous immunoglobulin by rapid "push" infusion for primary immunodeficiency patients in Manitoba: a retrospective review.

Walter G, Kalicinsky C, Warrington R, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2020; (16()):34 doi:10.1186/s13223-020-00431-3.

Identifying Novel Mutations in Iranian Patients with LPS-responsive Beige-like Anchor Protein (LRBA) Deficiency.

Ghaini M, Arzanian MT, Shamsian BS, et al.

Immunological investigations 2021; (50(4)):399-405 doi:10.1080/08820139.2020.1770784.

Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.

Meshaal S, El Hawary R, Adel R, et al.

Journal of clinical immunology 2020; (40(6)):820-832 doi:10.1007/s10875-020-00799-2.

Treatment and management of primary antibody deficiency: German interdisciplinary evidence-based consensus guideline.

Hanitsch L, Baumann U, Boztug K, et al.

European journal of immunology 2020; (50(10)):1432-1446 doi:10.1002/eji.202048713.

Pulmonary manifestations of immune dysregulation in CTLA-4 haploinsufficiency and LRBA deficiency.

Krone KA, Winant AJ, Vargas SO, et al.

Pediatric pulmonology 2021; (56(7)):2232-2241 doi:10.1002/ppul.25373.

Regulation of CTLA-4 recycling by LRBA and Rab11.

Janman D, Hinze C, Kennedy A, et al.

Immunology 2021; (164(1)):106-119 doi:10.1111/imm.13343.

Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies.

Gámez-Díaz L, Seidel MG

Frontiers in pediatrics 2021; (9()):662645 doi:10.3389/fped.2021.662645.

Abatacept is effective in Chinese patients with LRBA and CTLA4 deficiency.

Yang L, Xue X, Chen X, et al.

Genes & diseases 2021; (8(5)):662-668 doi:10.1016/j.gendis.2020.03.001.

Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes.

Gámez-Díaz L, Grimbacher B

Biomedical journal 2021; (44(4)):400-411 doi:10.1016/j.bj.2021.04.005.

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Merico D, Pasternak Y, Zarrei M, et al.

NPJ genomic medicine 2021; (6(1)):96 doi:10.1038/s41525-021-00263-z.

The Immune Deficiency and Dysregulation Activity (IDDA2.1 'Kaleidoscope') Score and Other Clinical Measures in Inborn Errors of Immunity.

Seidel MG, Tesch VK, Yang L, et al.

Journal of clinical immunology 2022; (42(3)):484-498 doi:10.1007/s10875-021-01177-2.

Targeted next-generation sequencing revealed a novel homozygous mutation in the LRBA gene causes severe haemolysis associated with Inborn Errors of Immunity in an Indian family.

Kedar P, Dongerdiye R, Chandrakala S, et al.

Hematology (Amsterdam, Netherlands) 2022; (27(1)):441-448 doi:10.1080/16078454.2022.2058736.

Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.

Catak MC, Akcam B, Bilgic Eltan S, et al.

Allergy 2022; (77(10)):3108-3123 doi:10.1111/all.15331.

Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.

Freund T, Baxter SK, Walsh T, et al.

Journal of clinical immunology 2023; (43(1)):151-164 doi:10.1007/s10875-022-01358-7.

Central nervous system manifestations of LRBA deficiency: case report of two siblings and literature review.

Mangodt TC, Vanden Driessche K, Norga KK, et al.

BMC pediatrics 2023; (23(1)):353 doi:10.1186/s12887-023-04182-z.

Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.

Taghizade N, Babayeva R, Kara A, et al.

The Journal of allergy and clinical immunology 2023; (152(6)):1634-1645 doi:10.1016/j.jaci.2023.08.004.

Analysis of LRBA pathogenic variants and the association with functional protein domains and clinical presentation.

Perez-Perez D, Santos-Argumedo L, Rodriguez-Alba JC, Lopez-Herrera G

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2024; (35(6)):e14179 doi:10.1111/pai.14179.

Novel Lipopolysaccharide-Responsive Vesicle Trafficking, Beach- and Anchor-Containing (LRBA) Gene Mutation Identified in a Pediatric Patient: A Case Report.

Dua J, Jadhav R, Pande V, et al.

Cureus 2024; (16(7)):e65434 doi:10.7759/cureus.65434.

Successful Haematopoietic Stem Cell Transplantation for LRBA Deficiency with Fludarabine, Treosulfan, and Thiotepa-Based Conditioning.

Shadur B, NasserEddin A, Zaidman I, et al.

Journal of clinical immunology 2024; (45(1)):3.

Arf1-dependent LRBA recruitment to Rab4 endosomes is required for endolysosome homeostasis.

Szentgyörgyi V, Lueck LM, Overwijn D, et al.

The Journal of cell biology 2024; (223(11)) doi:10.1083/jcb.202401167.

Investigating concomitant RAG-2 and LRBA mutations in SCID and autoimmunity.

Spivak I, Frizinsky S, Mandola A, et al.

Clinical and experimental immunology 2026; (220(1)) doi:10.1093/cei/uxae083.

Lipopolysaccharide-responsive and beige-like anchor protein (LRBA) functional deficiency caused by biallelic LRBA missense variants characterized by Evans syndrome or colitis.

Chiang SCC, Yang L, Owsley E, et al.

The Journal of allergy and clinical immunology 2025; (156(2)):270-278 doi:10.1016/j.jaci.2025.04.003.

Multiple Organ Involvement in a Boy with Lipopolysaccharide-Responsive Beige-like Anchor Protein Deficiency Detected by F-18 Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography.

Abdulrezzak U, Temizer E, Ozcan A

Pediatric allergy, immunology, and pulmonology 2025; (38(4)):144-148 doi:10.1177/2151321X251368265.

Abatacept treatment shows a modulating effect on Treg subsets in LRBA-deficient patients.

Donhauser S, Salzmann-Manrique E, Lueck LM, et al.

Frontiers in immunology 2026; (17()):1697915 doi:10.3389/fimmu.2026.1697915.

Case Report: Different faces of LRBA deficiency in five Moroccan families.

Hbibi M, Elamine A, Benhsaien I, et al.

Frontiers in immunology 2026; (17()):1807421 doi:10.3389/fimmu.2026.1807421.

Adult-Onset LRBA Deficiency Presenting with Rheumatoid Arthritis-Like Manifestations: A Case Report.

Ninagawa K, Kudo Y, Kono M, et al.

Journal of clinical immunology 2026; (46(1)).

ABACHAI phase 2 clinical trial: Safety and efficacy of subcutaneous abatacept in patients with CTLA-4 insufficiency or LRBA deficiency.

Krausz M, Sogkas G, Uhlmann A, et al.

The Journal of allergy and clinical immunology 2026; doi:10.1016/j.jaci.2026.09.007.