References
- Benchimol EI, Bernstein CN, Bitton A, Carroll MW, Singh H, Otley AR, et al. Trends in epidemiology of pediatric inflammatory bowel disease in Canada: distributed network analysis of multiple population-based provincial health administrative databases. Am J Gastroenterol 2017;112:1120-34. https://doi.org/10.1038/ajg.2017.97
- Benchimol EI, Mack DR, Nguyen GC, Snapper SB, Li W, Mojaverian N, et al. Incidence, outcomes, and health services burden of very early onset inflammatory bowel disease. Gastroenterology 2014;147:803-13.e7; quiz e14-5. https://doi.org/10.1053/j.gastro.2014.06.023
- El Mouzan MI, Saadah O, Al-Saleem K, Al Edreesi M, Hasosah M, Alanazi A, et al. Incidence of pediatric inflammatory bowel disease in Saudi Arabia: a multicenter national study. Inflamm Bowel Dis 2014;20:1085-90.
- Ishige T, Tomomasa T, Hatori R, Tatsuki M, Igarashi Y, Sekine K, et al. Temporal trend of pediatric inflammatory bowel disease: analysis of national registry data 2004 to 2013 in Japan. J Pediatr Gastroenterol Nutr 2017;65:e80-2. https://doi.org/10.1097/MPG.0000000000001547
- Benchimol EI, Fortinsky KJ, Gozdyra P, Van den Heuvel M, Van Limbergen J, Griffiths AM. Epidemiology of pediatric inflammatory bowel disease: a systematic review of international trends. Inflamm Bowel Dis 2011;17:423-39. https://doi.org/10.1002/ibd.21349
- Chouraki V, Savoye G, Dauchet L, Vernier-Massouille G, Dupas JL, Merle V, et al. The changing pattern of Crohn's disease incidence in northern France: a continuing increase in the 10- to 19-year-old age bracket (1988-2007). Aliment Pharmacol Ther 2011;33:1133-42. https://doi.org/10.1111/j.1365-2036.2011.04628.x
- Ong C, Aw MM, Liwanag MJ, Quak SH, Phua KB. Rapid rise in the incidence and clinical characteristics of pediatric inflammatory bowel disease in a South-East Asian cohort in Singapore, 1994-2015. J Dig Dis 2018;19:395-403. https://doi.org/10.1111/1751-2980.12641
- Ng SC, Shi HY, Hamidi N, Underwood FE, Tang W, Benchimol EI, et al. Worldwide incidence and prevalence of inflammatory bowel disease in the 21st century: a systematic review of population-based studies. Lancet 2018;390:2769-78. https://doi.org/10.1016/S0140-6736(17)32448-0
- Silverberg MS, Satsangi J, Ahmad T, Arnott ID, Bernstein CN, Brant SR, et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 2005;19 Suppl A:5A-36A. https://doi.org/10.1155/2005/269076
- Levine A, Griffiths A, Markowitz J, Wilson DC, Turner D, Russell RK, et al. Pediatric modification of the Montreal classification for inflammatory bowel disease: the Paris classification. Inflamm Bowel Dis 2011;17:1314-21. https://doi.org/10.1002/ibd.21493
- Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology 2014;147:990-1007.e3. https://doi.org/10.1053/j.gastro.2014.07.023
- Turpin W, Goethel A, Bedrani L, Croitoru Mdcm K. Determinants of IBD heritability: genes, bugs, and more. Inflamm Bowel Dis 2018;24:1133-48. https://doi.org/10.1093/ibd/izy085
- Uhlig HH, Powrie F. Translating immunology into therapeutic concepts for inflammatory bowel disease. Annu Rev Immunol 2018;36:755-81. https://doi.org/10.1146/annurev-immunol-042617-053055
- Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 2009;361:2033-45. https://doi.org/10.1056/NEJMoa0907206
- Shim JO. Recent advance in very early onset inflammatory bowel disease. Pediatr Gastroenterol Hepatol Nutr 2019;22:41-9. https://doi.org/10.5223/pghn.2019.22.1.41
- Ouahed J, Spencer E, Kotlarz D, Shouval DS, Kowalik M, Peng K, et al. Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies. Inflamm Bowel Dis 2020;26:820-42. https://doi.org/10.1093/ibd/izz259
- Benchimol EI, Manuel DG, Guttmann A, Nguyen GC, Mojaverian N, Quach P, et al. Changing age demographics of inflammatory bowel disease in Ontario, Canada: a population-based cohort study of epidemiology trends. Inflamm Bowel Dis 2014;20:1761-9. https://doi.org/10.1097/MIB.0000000000000103
- Loftus EV Jr. Clinical epidemiology of inflammatory bowel disease: incidence, prevalence, and environmental influences. Gastroenterology 2004;126:1504-17. https://doi.org/10.1053/j.gastro.2004.01.063
- Heyman MB, Kirschner BS, Gold BD, Ferry G, Baldassano R, Cohen SA, et al. Children with early-onset inflammatory bowel disease (IBD): analysis of a pediatric IBD consortium registry. J Pediatr 2005;146:35-40. https://doi.org/10.1016/j.jpeds.2004.08.043
- Bequet E, Sarter H, Fumery M, Vasseur F, Armengol-Debeir L, Pariente B, et al. Incidence and phenotype at diagnosis of very-early-onset compared with later-onset paediatric inflammatory bowel disease: a population-based study [1988-2011]. J Crohn's Colitis 2017;11:519-26.
- Takeuchi I, Kaburaki Y, Arai K, Shimizu H, Hirano Y, Nagata S, et al. Infliximab for very early-onset inflammatory bowel disease: a tertiary center experience in Japan. J Gastroenterol Hepatol 2020;35:593-600. https://doi.org/10.1111/jgh.14836
- Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, et al. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet 2016;48:67-73. https://doi.org/10.1038/ng.3459
- Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, et al. Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol 142018;141:1485-8.e11. https://doi.org/10.1016/j.jaci.2017.10.039
- Umeno J, Hisamatsu T, Esaki M, Hirano A, Kubokura N, Asano K, et al. A hereditary enteropathy caused by mutations in the SLCO2A1 gene, encoding a prostaglandin transporter. PLoS Genet 2015;11:e1005581. https://doi.org/10.1371/journal.pgen.1005581
- Kelsen JR, Sullivan KE, Rabizadeh S, Singh N, Snapper S, Elkadri A, et al. North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition position paper on the evaluation and management for patients with very early-onset inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2020;70:389-403. https://doi.org/10.1097/mpg.0000000000002567
- Levine A, Koletzko S, Turner D, Escher JC, Cucchiara S, de Ridder L, et al. ESPGHAN revised porto criteria for the diagnosis of inflammatory bowel disease in children and adolescents. J Pediatr Gastroenterol Nutr 2014;58:795-806. https://doi.org/10.1097/mpg.0000000000000239
- Watson TA, Petit P, Augdal TA, Avni EF, Bruno C, Damasio MB, et al. European Society of Paediatric Radiology abdominal imaging task force: statement on imaging in very early onset inflammatory bowel disease. Pediatr Radiol 2019;49:841-8. https://doi.org/10.1007/s00247-019-04375-8
- Nambu R, Hagiwara SI, Kakuta F, Hara T, Shimizu H, Abukawa D, et al. Current role of colonoscopy in infants and young children: a multicenter study. BMC Gastroenterol 2019;19:149. https://doi.org/10.1186/s12876-019-1060-7
- Obayashi N, Arai K, Nakano N, Mizukami T, Kawai T, Yamamoto S, et al. Leopard skin-like colonic mucosa: a novel endoscopic finding of chronic granulomatous disease-associated colitis. J Pediatr Gastroenterol Nutr 2016;62:56-9. https://doi.org/10.1097/MPG.0000000000000905
- Conrad MA, Carreon CK, Dawany N, Russo P, Kelsen JR. Distinct histopathological features at diagnosis of very early onset inflammatory bowel disease. J Crohn's Colitis 2019;13:615-25. https://doi.org/10.1093/ecco-jcc/jjy212
- Iwama I, Shimizu H, Nambu R, Okuhira T, Kakuta F, Tachibana N, et al. Efficacy and safety of a capsule endoscope delivery device in children. Eur J Gastroenterol Hepatol 2019;31:1502-7. https://doi.org/10.1097/MEG.0000000000001513
- Oikawa-Kawamoto M, Sogo T, Yamaguchi T, Tsunoda T, Kondo T, Komatsu H, et al. Safety and utility of capsule endoscopy for infants and young children. World J Gastroenterol 2013;19:8342-8. https://doi.org/10.3748/wjg.v19.i45.8342
- Yokoyama K, Yano T, Kumagai H, Mizuta K, Ono S, Imagawa T, et al. Double-balloon enteroscopy for pediatric patients: evaluation of safety and efficacy in 257 cases. J Pediatr Gastroenterol Nutr 2016;63:34-40. https://doi.org/10.1097/MPG.0000000000001048
- Hagiwara SI, Kudo T, Kakuta F, Inoue M, Yokoyama K, Umetsu S, et al. Clinical safety and utility of pediatric balloon-assisted enteroscopy: a multicenter prospective study in Japan. J Pediatr Gastroenterol Nutr 2019;68:306-10. https://doi.org/10.1097/MPG.0000000000002181
- Ruemmele FM, Veres G, Kolho KL, Griffiths A, Levine A, Escher JC, et al. Consensus guidelines of ECCO/ESPGHAN on the medical management of pediatric Crohn's disease. J Crohn's Colitis 2014;8:1179-207. https://doi.org/10.1016/j.crohns.2014.04.005
- Turner D, Ruemmele FM, Orlanski-Meyer E, Griffiths AM, de Carpi JM, Bronsky J, et al. Management of paediatric ulcerative colitis, part 1: ambulatory care-an evidence-based guideline from European Crohn's and Colitis Organization and European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2018;67:257-91. https://doi.org/10.1097/MPG.0000000000002035
- Turner D, Ruemmele FM, Orlanski-Meyer E, Griffiths AM, de Carpi JM, Bronsky J, et al. Management of paediatric ulcerative colitis, part 2: acute severe colitis-an evidence-based consensus guideline from the European Crohn's and Colitis Organization and the European Society of Paediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2018;67:292-310. https://doi.org/10.1097/MPG.0000000000002036
- Hyams JS, Dubinsky MC, Baldassano RN, Colletti RB, Cucchiara S, Escher J, et al. Infliximab is not associated with increased risk of malignancy or hemophagocytic lymphohistiocytosis in pediatric patients with inflammatory bowel disease. Gastroenterology 2017;152:1901-14.e3. https://doi.org/10.1053/j.gastro.2017.02.004
- Grossman AB, Noble AJ, Mamula P, Baldassano RN. Increased dosing requirements for 6-mercaptopurine and azathioprine in inflammatory bowel disease patients six years and younger. Inflamm Bowel Dis 2008;14:750-5. https://doi.org/10.1002/ibd.20387
- Kakuta Y, Kawai Y, Okamoto D, Takagawa T, Ikeya K, Sakuraba H, et al. NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study. J Gastroenterol 2018;53:1065-78. https://doi.org/10.1007/s00535-018-1486-7
- Kakuta Y, Kinouchi Y, Shimosegawa T. Pharmacogenetics of thiopurines for inflammatory bowel disease in East Asia: prospects for clinical application of NUDT15 genotyping. J Gastroenterol 2018;53:172-80. https://doi.org/10.1007/s00535-017-1416-0
- Kelsen JR, Grossman AB, Pauly-Hubbard H, Gupta K, Baldassano RN, Mamula P. Infliximab therapy in pediatric patients 7 years of age and younger. J Pediatr Gastroenterol Nutr 2014;59:758-62. https://doi.org/10.1097/MPG.0000000000000533
- Bramuzzo M, Arrigo S, Romano C, Filardi MC, Lionetti P, Agrusti A, et al. Efficacy and safety of infliximab in very early onset inflammatory bowel disease: a national comparative retrospective study. United European Gastroenterol J 2019;7:759-66. https://doi.org/10.1177/2050640619847592
- Ono S, Okano T, Hoshino A, Yanagimachi M, Hamamoto K, Nakazawa Y, et al. Hematopoietic stem cell transplantation for XIAP deficiency in Japan. J Clin Immunol 2017;37:85-91. https://doi.org/10.1007/s10875-016-0348-4
- Marsh RA, Rao K, Satwani P, Lehmberg K, Muller I, Li D, et al. Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes. Blood 2013;121:877-83. https://doi.org/10.1182/blood-2012-06-432500
- Lum SH, Hoenig M, Gennery AR, Slatter MA. Conditioning regimens for hematopoietic cell transplantation in primary immunodeficiency. Curr Allergy Asthma Rep 2019;19:52. https://doi.org/10.1007/s11882-019-0883-1
-
Uzel G, Orange JS, Poliak N, Marciano BE, Heller T, Holland SM. Complications of tumor necrosis
$factor-{\alpha}$ blockade in chronic granulomatous disease-related colitis. Clin Infect Dis 2010;51:1429-34. https://doi.org/10.1086/657308 - Kawai T, Watanabe N, Yokoyama M, Arai K, Oana S, Harayama S, et al. Thalidomide attenuates excessive inflammation without interrupting lipopolysaccharide-driven inflammatory cytokine production in chronic granulomatous disease. Clin Immunol 2013;147:122-8. https://doi.org/10.1016/j.clim.2013.03.004
- Sokol H, Suarez F, Meatchi T, Malamut G, Pocidalo MA, Blanche S, et al. Thalidomide as a treatment for refractory CGD colitis. Am J Gastroenterol 2009;104:1069. https://doi.org/10.1038/ajg.2009.56
- de Luca A, Smeekens SP, Casagrande A, Iannitti R, Conway KL, Gresnigt MS, et al. IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans. Proc Natl Acad Sci U S A 2014;111:3526-31. https://doi.org/10.1073/pnas.1322831111
-
Shouval DS, Biswas A, Kang YH, Griffith AE, Konnikova L, Mascanfroni ID, et al. Interleukin
$1{\beta}$ mediates intestinal inflammation in mice and patients with interleukin 10 receptor deficiency. Gastroenterology 2016;151:1100-4. https://doi.org/10.1053/j.gastro.2016.08.055 - Galeotti C, Meinzer U, Quartier P, Rossi-Semerano L, Bader-Meunier B, Pillet P, et al. Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency. Rheumatology (Oxford) 2012;51:1855-9. https://doi.org/10.1093/rheumatology/kes097
- Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 2015;349:436-40. https://doi.org/10.1126/science.aaa1663
- Dipasquale V, Romano C. Vaccination strategies in pediatric inflammatory bowel disease. Vaccine 2017;35:6070-5. https://doi.org/10.1016/j.vaccine.2017.09.031
- Kamei K, Miyairi I, Ishikura K, Ogura M, Shoji K, Funaki T, et al. Prospective study of live attenuated vaccines for patients with nephrotic syndrome receiving immunosuppressive agents. J Pediatr 2018;196:217-22.e1. https://doi.org/10.1016/j.jpeds.2017.12.061
- Maxwell EC, Dawany N, Baldassano RN, Mamula P, Mattei P, Albenberg L, et al. Diverting ileostomy for the treatment of severe, refractory, pediatric inflammatory bowel disease. J Pediatr Gastroenterol Nutr 2017;65:299-305. https://doi.org/10.1097/MPG.0000000000001498
- Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K, et al. Phenotypic and genotypic characterisation of inflammatory bowel disease presenting before the age of 2 years. J Crohn's Colitis 2017;11:60-9. https://doi.org/10.1093/ecco-jcc/jjw118