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Staels F, Collignon T, Betrains A, Gerbaux M, Willemsen M, et al. 2021. Monogenic adult-onset inborn errors of immunity. Frontiers in Immunology<\/ext-link><\/i> 12:753978<\/p>","DOI":"10.3389\/fimmu.2021.753978"},{"key":"key-10.48130\/pedi-0026-0004-2","doi-asserted-by":"publisher","unstructured":"

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<\/ext-link><\/i> 151(6):1429\u22121447<\/p>","DOI":"10.1016\/j.jaci.2023.03.026"},{"key":"key-10.48130\/pedi-0026-0004-3","doi-asserted-by":"publisher","unstructured":"

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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<\/ext-link><\/i> 212(2):107\u2212116<\/p>","DOI":"10.1093\/cei\/uxad007"},{"key":"key-10.48130\/pedi-0026-0004-7","doi-asserted-by":"publisher","unstructured":"

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<\/ext-link><\/i> 40(1):66\u221269<\/p>","DOI":"10.1097\/INF.0000000000002887"},{"key":"key-10.48130\/pedi-0026-0004-8","doi-asserted-by":"publisher","unstructured":"

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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<\/ext-link><\/i> 106(2):196\u2212204<\/p>","DOI":"10.1111\/ejh.13536"},{"key":"key-10.48130\/pedi-0026-0004-34","doi-asserted-by":"publisher","unstructured":"

Fiorina P, Voltarelli J, Zavazava N. 2011. Immunological applications of stem cells in type 1 diabetes. Endocrine Reviews<\/ext-link><\/i> 32(6):725\u2212754<\/p>","DOI":"10.1210\/er.2011-0008"},{"key":"key-10.48130\/pedi-0026-0004-35","doi-asserted-by":"publisher","unstructured":"

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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<\/ext-link><\/i> 35(7):1413\u22121419<\/p>","DOI":"10.2337\/dc11-2161"},{"key":"key-10.48130\/pedi-0026-0004-38","doi-asserted-by":"publisher","unstructured":"

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