Research & Literature

A transendocytosis model of CTLA-4 function predicts its suppressive behavior on regulatory T cells.

Hou TZ, Qureshi OS, Wang CJ, et al.

Journal of immunology (Baltimore, Md. : 1950) 2015; (194(5)):2148-59 doi:10.4049/jimmunol.1401876.

A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.

Hayakawa S, Okada S, Tsumura M, et al.

Journal of clinical immunology 2016; (36(1)):28-32 doi:10.1007/s10875-015-0221-x.

Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations.

Hou TZ, Verma N, Wanders J, et al.

Blood 2017; (129(11)):1458-1468 doi:10.1182/blood-2016-10-745174.

Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes.

Buchbinder D, Seppanen M, Rao VK, et al.

Journal of pediatric hematology/oncology 2018; (40(5)):e319-e322 doi:10.1097/MPH.0000000000001003.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Besnard C, Levy E, Aladjidi N, et al.

Clinical immunology (Orlando, Fla.) 2018; (188()):52-57 doi:10.1016/j.clim.2017.12.009.

An Activating Janus Kinase-3 Mutation Is Associated with Cytotoxic T Lymphocyte Antigen-4-Dependent Immune Dysregulation Syndrome.

Sic H, Speletas M, Cornacchione V, et al.

Frontiers in immunology 2017; (8()):1824 doi:10.3389/fimmu.2017.01824.

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

Schwab C, Gabrysch A, Olbrich P, et al.

The Journal of allergy and clinical immunology 2018; (142(6)):1932-1946 doi:10.1016/j.jaci.2018.02.055.

Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.

Egg D, Schwab C, Gabrysch A, et al.

Frontiers in immunology 2018; (9()):2012 doi:10.3389/fimmu.2018.02012.

What did we learn from CTLA-4 insufficiency on the human immune system?

Mitsuiki N, Schwab C, Grimbacher B

Immunological reviews 2019; (287(1)):33-49 doi:10.1111/imr.12721.

CTLA-4-mediated transendocytosis of costimulatory molecules primarily targets migratory dendritic cells.

Ovcinnikovs V, Ross EM, Petersone L, et al.

Science immunology 2019; (4(35)) doi:10.1126/sciimmunol.aaw0902.

Immune dysregulation syndrome with de novo CTLA4 germline mutation responsive to abatacept therapy.

Ureshino H, Koarada S, Kamachi K, et al.

International journal of hematology 2020; (111(6)):897-902 doi:10.1007/s12185-020-02834-9.

Molecular and Cellular Functions of CTLA-4.

Van Coillie S, Wiernicki B, Xu J

Advances in experimental medicine and biology 2020; (1248()):7-32 doi:10.1007/978-981-15-3266-5_2.

Two neurologic facets of CTLA4-related haploinsufficiency.

Ayrignac X, Goulabchand R, Jeziorski E, et al.

Neurology(R) neuroimmunology & neuroinflammation 2020; (7(4)) doi:10.1212/NXI.0000000000000751.

Neurological manifestation of immune system dysregulation resulting from CTLA-4 receptor mutation: a case report.

Kolcava J, Litzman J, Bednarik J, et al.

Multiple sclerosis and related disorders 2020; (45()):102313 doi:10.1016/j.msard.2020.102313.

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.

Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder.

Schindler MK, Pittaluga S, Enose-Akahata Y, et al.

The Journal of clinical investigation 2020; (130(10)):5551-5561.

A case of autoimmune enteropathy with CTLA4 haploinsufficiency.

Miyazaki H, Hoshi N, Kohashi M, et al.

Intestinal research 2022; (20(1)):144-149 doi:10.5217/ir.2020.00041.

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.

CTLA-4 in Regulatory T Cells for Cancer Immunotherapy.

Sobhani N, Tardiel-Cyril DR, Davtyan A, et al.

Cancers 2021; (13(6)) doi:10.3390/cancers13061440.

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.

Therapeutic options for CTLA-4 insufficiency.

Egg D, Rump IC, Mitsuiki N, et al.

The Journal of allergy and clinical immunology 2022; (149(2)):736-746 doi:10.1016/j.jaci.2021.04.039.

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.

Treg-expressed CTLA-4 depletes CD80/CD86 by trogocytosis, releasing free PD-L1 on antigen-presenting cells.

Tekguc M, Wing JB, Osaki M, et al.

Proceedings of the National Academy of Sciences of the United States of America 2021; (118(30)) doi:10.1073/pnas.2023739118.

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.

CTLA-4 gene mutation and multiple sclerosis: A case report and literature review.

Lin TW, Hu YC, Yang YH, et al.

Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2022; (55(3)):545-548 doi:10.1016/j.jmii.2021.10.009.

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.

Cytotoxic T Lymphocyte Antigen 4 Haploinsufficiency Presenting As Refractory Celiac-Like Disease: Case Report.

Collen LV, Salgado CA, Bao B, et al.

Frontiers in immunology 2022; (13()):894648 doi:10.3389/fimmu.2022.894648.

Successful Treatment of Granulomatous-lymphocytic Interstitial Lung Disease in a Patient with CTLA-4 Deficiency.

Nishimura M, Miyata J, Tanigaki T, et al.

Internal medicine (Tokyo, Japan) 2023; (62(6)):871-875 doi:10.2169/internalmedicine.0076-22.

A Rare Central Nervous System Involvement Due to CTLA-4 Gene Defect.

Rovshanov S, Göçmen R, Barişta İ, et al.

Noro psikiyatri arsivi 2022; (59(3)):248-252 doi:10.29399/npa.27900.

Case report: Challenges in immune reconstitution following hematopoietic stem cell transplantation for CTLA-4 insufficiency-like primary immune regulatory disorders.

Margarit-Soler A, Deyà-Martínez À, Canizales JT, et al.

Frontiers in immunology 2022; (13()):1070068 doi:10.3389/fimmu.2022.1070068.

CTLA-4 Haploinsufficiency Presenting as Extensive Enteropathy in a Patient With Very Early Onset Inflammatory Bowel Disease.

Tran NN, Setty M, Cham E, et al.

JPGN reports 2021; (2(3)):e099 doi:10.1097/PG9.0000000000000099.

Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement.

Coustal C, Goulabchand R, Labauge P, et al.

Neurology 2023; (101(15)):e1560-e1566 doi:10.1212/WNL.0000000000207609.

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.

Bilateral Panuveitis in an Adolescent with Autoimmune Lymphoproliferative Syndrome Due to CTLA4 Haploinsufficiency.

Woodward R, Gross A, Justin GA, et al.

Ocular immunology and inflammation 2024; (32(8)):1888-1892 doi:10.1080/09273948.2023.2250441.

Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene: A case report.

Musabak U, Erdoğan T, Ceylaner S, et al.

World journal of clinical cases 2023; (11(26)):6176-6182 doi:10.12998/wjcc.v11.i26.6176.

Hematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: A European Society for Blood and Marrow Transplantation Inborn Errors Working Party study.

Tsilifis C, Speckmann C, Lum SH, et al.

The Journal of allergy and clinical immunology 2024; (154(6)):1534-1544 doi:10.1016/j.jaci.2024.08.020.

CTLA4 Alteration and Neurologic Manifestations: A New Family with Large Phenotypic Variability and Literature Review.

Genio E, Lecca M, Ciccocioppo R, Errichiello E

Genes 2025; (16(3)) doi:10.3390/genes16030306.

Clinical and genetic features of CTLA-4 haploinsufficiency: a prospective study in China.

Liu G, Zhang J, Wu D, et al.

BMC rheumatology 2026; (10(1)).

Clinical and Genetic Characteristics of Patients With Novel and Uncertain Significance Variants in CTLA4: A Mexican Cohort.

López-Herrera G, O'Farrill-Romanillos P, Rodriguez-Alba JC, et al.

Clinical genetics 2026; (110(2)):260-267 doi:10.1111/cge.70179.

Primary Immune Regulatory Disorders (PIRD): Tools for Diagnosis and Disease Activity Assessment to Guide Therapy.

Oved JH, Torgerson TR, Chan AY

The journal of allergy and clinical immunology. In practice 2026; (14(7)):1467-1474 doi:10.1016/j.jaip.2026.05.015.

A systematic review of abatacept and belatacept in immune-mediated diseases.

Krek AM, Arnold DD, Martin AC, Raeber ME

Journal of autoimmunity 2026; (163()):103608 doi:10.1016/j.jaut.2026.103608.

Novel pathogenic CTLA4 missense variant associated with autoimmune enteropathy and systemic immune dysregulation.

Zheng D, Tian C, Ye X, et al.

Frontiers in immunology 2026; (17()):1855020 doi:10.3389/fimmu.2026.1855020.

Single-cell landscape of immunological responses in CTLA4 haploinsufficiency patient after abatacept therapy.

Jiang X, Zhao H, He Y, et al.

Clinical and experimental rheumatology 2026; doi:10.55563/clinexprheumatol/94fa8r.

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.

Case Report: The first Mainland Chinese case of CTLA4 c.529dupT haploinsufficiency with a 38-year diagnostic delay.

Gu X, Guo J, Li L, et al.

Frontiers in immunology 2026; (17()):1899668 doi:10.3389/fimmu.2026.1899668.