Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009;361:2033–45.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shouval DS, Ouahed J, Biswas A, et al. Interleukin 10 receptor signaling: master regulator of intestinal mucosal homeostasis in mice and humans. Adv Immunol. 2014;122:177–210.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moran CJ, Walters TD, Guo CH, et al. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis. 2013;19:115–23.

Article  PubMed  Google Scholar 

Engelhardt KR, Shah N, Faizura-Yeop I, et al. Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2013;131:825–30.

Article  CAS  PubMed  Google Scholar 

Wang P, Qian X, Jiang W, et al. Cord blood transplantation for very early-onset inflammatory bowel disease caused by interleukin-10 receptor deficiency. J Clin Immunol. 2024;44:67.

Article  PubMed  Google Scholar 

Ye Z, Qian L, Hu W, et al. Clinical outcome of infantile-onset inflammatory bowel disease in 102 patients with interleukin-10 signalling deficiency. Aliment Pharmacol Ther. 2022;55:1414–22.

Article  CAS  PubMed  Google Scholar 

Aschenbrenner D, Ye Z, Zhou Y, et al. Pathogenic Interleukin-10 receptor alpha variants in humans - balancing natural selection and clinical implications. J Clin Immunol. 2023;43:495–511.

Article  CAS  PubMed  Google Scholar 

Yanagi T, Mizuochi T, Takaki Y, et al. Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report. BMC Gastroenterol. 2016;16:10.

Article  PubMed  PubMed Central  Google Scholar 

Isobe K, Saida S, Honda Y et al. Fecal calprotectin and targeted sequencing for early detection of IL-10RA deficiency, enabling prompt treatment and optimal clinical outcomes. Pediatr Blood Cancer Published Online May 9, 2024.

Osumi T, Yoshimura S, Sako M, et al. Prospective study of allogeneic hematopoietic stem cell transplantation with post-transplantation cyclophosphamide and antithymocyte globulin from HLA-mismatched related donors for nonmalignant diseases. Biol Blood Marrow Transpl. 2020;26:e286–91.

Article  CAS  Google Scholar 

Suzuki T, Sasahara Y, Kikuchi A, et al. Targeted sequencing and immunological analysis reveal the involvement of primary immunodeficiency genes in pediatric IBD: a Japanese multicenter study. J Clin Immunol. 2017;37:67–79.

Article  CAS  PubMed  Google Scholar 

Ishige T, Igarashi Y, Hatori R, et al. IL-10RA mutation as a risk factor of severe influenza-associated encephalopathy: a Case Report. Pediatrics. 2018;141:e20173548.

Article  PubMed  Google Scholar 

Bousfiha A, Jeddane L, Picard C, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40:66–81.

Article  PubMed  PubMed Central  Google Scholar 

Shima E, Hino M, Yamane T, et al. Acute rhabdomyolysis following administration of high-dose cyclophosphamide: case report. Ann Hematol. 2002;81:55–6.

Article  CAS  PubMed  Google Scholar 

Tabata N, Tanaka R, Suga S, et al. Rhabdomyolysis following administration of cyclophosphamide: a case report in a BMT recipient. Bone Marrow Transpl. 1996;17:1167–9.

CAS  Google Scholar 

Kotlarz D, Beier R, Murugan D, et al. Loss of interleukin-10 signaling and infantile inflammatory bowel disease: implications for diagnosis and therapy. Gastroenterology. 2012;143:347–55.

Article  CAS  PubMed  Google Scholar 

Peng K, Qian X, Huang Z, et al. Umbilical cord blood transplantation corrects very early-onset inflammatory bowel disease in Chinese patients with IL10RA-associated immune deficiency. Inflamm Bowel Dis. 2018;24:1416–27.

Article  PubMed  Google Scholar 

Kocacik Uygun DF, Uygun V, Daloğlu H, et al. Hematopoietic stem cell transplantation from unrelated donors in 2 cases of Interleukin-10 receptor Deficiency: is surgery not a requirement? J Pediatr Hematol Oncol. 2019;41:64–6.

Article  PubMed  Google Scholar 

Karaca NE, Aksu G, Ulusoy E, et al. Early diagnosis and hematopoietic stem cell transplantation for IL10R Deficiency leading to very early-onset inflammatory bowel Disease are essential in familial cases. Case Rep Immunol. 2016;2016:5459029.

Google Scholar 

Dimitrova D, Gea-Banacloche J, Steinberg SM, et al. Prospective study of a Novel, Radiation-Free, reduced-intensity bone marrow transplantation platform for primary Immunodeficiency diseases. Biol Blood Marrow Transpl. 2020;26:94–106.

Article  CAS  Google Scholar 

Khajoee V, Ihara K, Kira R, et al. Founder effect of the C9 R95X mutation in Orientals. Hum Genet. 2003;112:244–8.

Article  CAS  PubMed  Google Scholar 

Tomomasa D, Lee BH, Hirata Y, et al. Inherited CARD9 deficiency due to a founder effect in East Asia. J Clin Immunol. 2024;44:121.

Article  CAS  PubMed  Google Scholar 

Ohya A, Tomomasa D, Sakura F et al. A case of primary ciliary dyskinesis with DRC1 deletion and literature review: additional evidence on the founder effect. Pediatr Int. In.

Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009;27:621–68.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schmid BV, Büntgen U, Easterday WR, et al. Climate-driven introduction of the black death and successive plague reintroductions into Europe. Proc Natl Acad Sci U S A. 2015;112:3020–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Monot M, Honoré N, Garnier T, et al. Comparative genomic and phylogeographic analysis of Mycobacterium leprae. Nat Genet. 2009;41:1282–9.

Article  CAS  PubMed  Google Scholar 

Simonson TS, Okinaka RT, Wang B, et al. Bacillus anthracis in China and its relationship to worldwide lineages. BMC Microbiol. 2009;9:71.

Article  PubMed  PubMed Central  Google Scholar 

Yeh HY, Mao R, Wang H, Qi W, Mitchell PD. Early evidence for travel with infectious diseases along the Silk Road: intestinal parasites from 2000 year-old personal hygiene sticks in a latrine at Xuanquanzhi Relay Station at China. J Archaeol Sci. 2016;9:758–64.

Google Scholar 

Tanaka H, Tsuji M. From discovery to eradication of schistosomiasis in Japan: 1847–1996. Int J Parasitol. 1997;27:1465–80.

Article  CAS  PubMed  Google Scholar 

Ebisawa I. Epidemiology and eradication of Schistosomiasis Japonica in Japan. J Travel Med. 1998;5:33–5.

Article  CAS  PubMed  Google Scholar 

Sharifinejad N, Zaki-Dizaji M, Sepahvandi R, et al. The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review. Clin Exp Immunol. 2022;208(3):281–91.

Article  PubMed  PubMed Central  Google Scholar