[1]

Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, et al. 2021. Monogenic adult-onset inborn errors of immunity. Frontiers in Immunology 12:753978

doi: 10.3389/fimmu.2021.753978
[2]

Mancuso G, Bechi Genzano C, Fierabracci A, Fousteri G. 2023. Type 1 diabetes and inborn errors of immunity: Complete strangers or 2 sides of the same coin? Journal of Allergy and Clinical Immunology 151(6):1429−1447

doi: 10.1016/j.jaci.2023.03.026
[3]

Atkinson MA, Eisenbarth GS, Michels AW. 2014. Type 1 diabetes. The Lancet 383(9911):69−82

doi: 10.1016/S0140-6736(13)60591-7
[4]

Herold KC, Delong T, Perdigoto AL, Biru N, Brusko TM, et al. 2024. The immunology of type 1 diabetes. Nature Reviews Immunology 24(6):435−451

doi: 10.1038/s41577-023-00985-4
[5]

Fabre A, Marchal S, Barlogis V, Mari B, Barbry P, et al. 2019. Clinical aspects of STAT3 gain-of-function germline mutations: a systematic review. The Journal of Allergy and Clinical Immunology: in Practice 7(6):1958−1969.e9

doi: 10.1016/j.jaip.2019.02.018
[6]

Mackie J, Ma CS, Tangye SG, Guerin A. 2023. The ups and Downs of STAT3 function: too much, too little and human immune dysregulation. Clinical and Experimental Immunology 212(2):107−116

doi: 10.1093/cei/uxad007
[7]

Soyak Aytekin E, Serin O, Cagdas D, Tan C, Aksu T, et al. 2021. A patient with AIRE mutation who presented with severe diarrhea and lung abscess. The Pediatric Infectious Disease Journal 40(1):66−69

doi: 10.1097/INF.0000000000002887
[8]

Ghosh S, Köstel Bal S, Edwards ESJ, Pillay B, Jiménez Heredia R, et al. 2020. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency. Blood 136(23):2638−2655

doi: 10.1182/blood.2020006738
[9]

Ye C, Low BE, Wiles MV, Brusko TM, Serreze DV, et al. 2020. CD70 inversely regulates regulatory T cells and invariant NKT cells and modulates type 1 diabetes in NOD mice. Journal of Immunology 205(7):1763−1777

doi: 10.4049/jimmunol.2000148
[10]

ElSayed NA, McCoy RG, Aleppo G, Balapattabi K, Beverly EA, et al. 2025. 2. diagnosis and classification of diabetes: standards of care in diabetes—2025. Diabetes Care 48:S27−S49

doi: 10.2337/dc25-s002
[11]

Al-Mousa H, Al-Dakheel G, Jabr A, Elbadaoui F, Abouelhoda M, et al. 2018. High incidence of severe combined immunodeficiency disease in Saudi Arabia detected through combined T cell receptor excision circle and next generation sequencing of newborn dried blood spots. Frontiers in Immunology 9:782

doi: 10.3389/fimmu.2018.00782
[12]

Richards S, Aziz N, Bale S, Bick D, Das S, et al. 2015. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genetics in Medicine 17(5):405−424

doi: 10.1038/gim.2015.30
[13]

Glaser N, Fritsch M, Priyambada L, Rewers A, Cherubini V, et al. 2022. ISPAD Clinical Practice Consensus Guidelines 2022: Diabetic ketoacidosis and hyperglycemic hyperosmolar state. Pediatric Diabetes 23(7):835−856

doi: 10.1111/pedi.13406
[14]

Bayram RO, Özdemir H, Emsen A, Türk Dağı H, Artaç H. 2019. Reference ranges for serum immunoglobulin (IgG, IgA, and IgM) and IgG subclass levels in healthy children. Turk J Med Sci 49(2):497−505

[15]

Shearer WT, Rosenblatt HM, Gelman RS, Oyomopito R, Plaeger S, Stiehm ER, et al. 2003. Lymphocyte subsets in healthy children from birth through 18 years of age: the Pediatric AIDS Clinical Trials Group P1009 study. J Allergy Clin Immunol 112(5):973−80

[16]

Piątosa B, Wolska-Kuśnierz B, Pac M, Siewiera K, Gałkowska E, Bernatowska E. 2010. B cell subsets in healthy children: reference values for evaluation of B cell maturation process in peripheral blood. Cytometry B Clin Cytom 78(6):372−81

[17]

Schatorjé EJ, Gemen EF, Driessen GJ, Leuvenink J, van Hout RW, de Vries E. 2012. Paediatric reference values for the peripheral T cell compartment. Scand J Immunol 75(4):436−44

[18]

Liu W, Maben Z, Wang C, Lindquist KC, Li M, et al. 2021. Structural delineation and phase-dependent activation of the costimulatory CD27: CD70 complex. Journal of Biological Chemistry 297(4):101102

doi: 10.1016/j.jbc.2021.101102
[19]

Arroyo Hornero R, Georgiadis C, Hua P, Trzupek D, He LZ, et al. 2020. CD70 expression determines the therapeutic efficacy of expanded human regulatory T cells. Communications Biology 3:375

doi: 10.1038/s42003-020-1097-8
[20]

Han BK, Olsen NJ, Bottaro A. 2016. The CD27–CD70 pathway and pathogenesis of autoimmune disease. Seminars in Arthritis and Rheumatism 45(4):496−501

doi: 10.1016/j.semarthrit.2015.08.001
[21]

Izawa K, Martin E, Soudais C, Bruneau J, Boutboul D, et al. 2017. Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection. Journal of Experimental Medicine 214(1):73−89

doi: 10.1084/jem.20160784
[22]

van de Ven K, Borst J. 2015. Targeting the T-cell co-stimulatory CD27/CD70 pathway in cancer immunotherapy: rationale and potential. Immunotherapy 7(6):655−667

doi: 10.2217/imt.15.32
[23]

Coquet JM, Middendorp S, van der Horst G, Kind J, Veraar EAM, et al. 2013. The CD27 and CD70 costimulatory pathway inhibits effector function of T helper 17 cells and attenuates associated autoimmunity. Immunity 38(1):53−65

doi: 10.1016/j.immuni.2012.09.009
[24]

Coquet JM, Ribot JC, Bąbała N, Middendorp S, van der Horst G, et al. 2013. Epithelial and dendritic cells in the thymic medulla promote CD4+Foxp3+ regulatory T cell development via the CD27–CD70 pathway. Journal of Experimental Medicine 210(4):715−728

doi: 10.1084/jem.20112061
[25]

Oflazoglu E, Boursalian TE, Zeng W, Edwards AC, Duniho S, et al. 2009. Blocking of CD27-CD70 pathway by anti-CD70 antibody ameliorates joint disease in murine collagen-induced arthritis. The Journal of Immunology 183(6):3770−3777

doi: 10.4049/jimmunol.0901637
[26]

Nakajima A, Oshima H, Nohara C, Morimoto S, Yoshino SI, et al. 2000. Involvement of CD70–CD27 interactions in the induction of experimental autoimmune encephalomyelitis. Journal of Neuroimmunology 109(2):188−196

doi: 10.1016/S0165-5728(00)00324-6
[27]

Abolhassani H. 2021. Specific immune response and cytokine production in CD70 deficiency. Frontiers in Pediatrics 9:615724

doi: 10.3389/fped.2021.615724
[28]

Alkhamis T, Barbic J, Crnogorac-Jurcevic T, Greenlaw RE, Peakman M, et al. 2012. Antibody combination therapy targeting CD25, CD70 and CD8 reduces islet inflammation and improves glycaemia in diabetic mice. Clinical and Experimental Immunology 170(2):139−148

doi: 10.1111/j.1365-2249.2012.04651.x
[29]

Dimitrova D, Gea-Banacloche J, Steinberg SM, Sadler JL, Hicks SN, et al. 2020. Prospective study of a novel, radiation-free, reduced-intensity bone marrow transplantation platform for primary immunodeficiency diseases. Biology of Blood and Marrow Transplantation 26(1):94−106

doi: 10.1016/j.bbmt.2019.08.018
[30]

Dell'Orso G, Bagnasco F, Giardino S, Pierri F, Ferrando G, et al. 2023. Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience. Frontiers in Immunology 14:1103080

doi: 10.3389/fimmu.2023.1103080
[31]

Cheminant M, Fox TA, Alligon M, Bouaziz O, Neven B, et al. 2023. Allogeneic stem cell transplantation compared to conservative management in adults with inborn errors of immunity. Blood 141(1):60−71

doi: 10.1182/blood.2022015482
[32]

Slatter M, Lum SH. 2023. Personalized hematopoietic stem cell transplantation for inborn errors of immunity. Frontiers in Immunology 14:1162605

doi: 10.3389/fimmu.2023.1162605
[33]

Torres Canizales J, Ferreras C, Pascual A, Alonso L, Regueiro A, et al. 2021. Haploidentical transplantation in pediatric non-malignant diseases: a retrospective analysis on behalf of the Spanish Group for Hematopoietic Transplantation (GETH). European Journal of Haematology 106(2):196−204

doi: 10.1111/ejh.13536
[34]

Fiorina P, Voltarelli J, Zavazava N. 2011. Immunological applications of stem cells in type 1 diabetes. Endocrine Reviews 32(6):725−754

doi: 10.1210/er.2011-0008
[35]

Pastore I, Assi E, Ben Nasr M, Bolla AM, Maestroni A, et al. 2021. Hematopoietic stem cells in type 1 diabetes. Frontiers in Immunology 12:694118

doi: 10.3389/fimmu.2021.694118
[36]

Couri CEB, Oliveira MCB, Stracieri ABPL, Moraes DA, Pieroni F. 2009. C-peptide levels and insulin independence following autologous nonmyeloablative hematopoietic stem cell transplantation in newly diagnosed type 1 diabetes mellitus. JAMA 301(15):1573

doi: 10.1001/jama.2009.470
[37]

Gu W, Hu J, Wang W, Li L, Tang W, et al. 2012. Diabetic ketoacidosis at diagnosis influences complete remission after treatment with hematopoietic stem cell transplantation in adolescents with type 1 diabetes. Diabetes Care 35(7):1413−1419

doi: 10.2337/dc11-2161
[38]

Madani S, Amanzadi M, Aghayan HR, Setudeh A, Rezaei N, et al. 2022. Investigating the safety and efficacy of hematopoietic and mesenchymal stem cell transplantation for treatment of T1DM: a systematic review and meta-analysis. Systematic Reviews 11(1):82

doi: 10.1186/s13643-022-01950-3
[39]

Sun SY, Gao Y, Liu GJ, Li YK, Gao W, et al. 2020. Efficacy and safety of stem cell therapy for T1DM: an updated systematic review and meta-analysis. Journal of Diabetes Research 2020:5740923

doi: 10.1155/2020/5740923
[40]

Pearson-Stuttard J, Blundell S, Harris T, Cook DG, Critchley J. 2016. Diabetes and infection: assessing the association with glycaemic control in population-based studies. The Lancet Diabetes & Endocrinology 4(2):148−158

doi: 10.1016/S2213-8587(15)00379-4
[41]

de Oliveira Borges JC, Correa IS, Gimenes GM, de Araújo Ferreira L, de Moura Silva MAR, et al. 2026. Bone marrow transplantation attenuates inflammation and improves glycemic control in type 2 non-obese diabetic Goto-Kakizaki rats. Molecular and Cellular Endocrinology 613:112716

doi: 10.1016/j.mce.2025.112716
[42]

Sobel DO, Henzke A, Abbassi V. 2010. Cyclosporin and methotrexate therapy induces remission in type 1 diabetes mellitus. Acta Diabetologica 47(3):243−250

doi: 10.1007/s00592-010-0188-2
[43]

Gandhi GY, Murad MH, Flynn DN, Elamin MB, Erwin PJ, et al. 2008. Immunotherapeutic agents in type 1 diabetes: a systematic review and meta-analysis of randomized trials. Clinical Endocrinology 69(2):244−252

doi: 10.1111/j.1365-2265.2008.03179.x
[44]

Gottlieb PA, Quinlan S, Krause-Steinrauf H, Greenbaum CJ, Wilson DM, et al. 2010. Failure to preserve β-cell function with mycophenolate mofetil and daclizumab combined therapy in patients with new- onset type 1 diabetes. Diabetes Care 33(4):826−832

doi: 10.2337/dc09-1349
[45]

Ciccocioppo R, Bernardo ME, Russo ML, Vanoli A, Franco C, et al. 2013. Allogeneic hematopoietic stem cell transplantation may restore gluten tolerance in patients with celiac disease. Journal of Pediatric Gastroenterology and Nutrition 56(4):422−427

doi: 10.1097/mpg.0b013e318276a6a7