References
- Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2019 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2020;40(1):24–64. doi: 10.1007/s10875-019-00737-x.
- Hartono S, Ippoliti MR, Mastroianni M, et al. Gastrointestinal disorders associated with primary immunodeficiency diseases. Clin Rev Allergy Immunol. 2019;57(2):145–165. doi: 10.1007/s12016-018-8689-9.
- Cakir M, Yakici N, Sag E, et al. Primary immunodeficiencies in children initially admitted with gastrointestinal/liver manifestations. Pediatr Gastroenterol Hepatol Nutr. 2023;26(4):201–212. doi: 10.5223/pghn.2023.26.4.201.
- Schwimmer D, Glover S. Primary immunodeficiency and the gut. Gastroenterol Clin North Am. 2019;48(2):199–220. doi: 10.1016/j.gtc.2019.02.004.
- Spahn TW, Kucharzik T. Modulating the intestinal immune system: the role of lymphotoxin and GALT organs. Gut. 2004;53(3):456–465. doi: 10.1136/gut.2003.023671.
- Mario Abinun MA, Cohen SB, Buckland M, et al. 2021 ESID Diagnostic Criteria 2016 [cited 2021 Jul 15]. Available from: https://esid.org/Working-Parties/Registry-Working-Party/Diagnosis-criteria
- Bousfiha A, Moundir A, Tangye SG, et al. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity. J Clin Immunol. 2022;42(7):1508–1520. doi: 10.1007/s10875-022-01352-z.
- Akkelle BS, Tutar E, Volkan B, et al. Gastrointestinal manifestations in children with primary immunodeficiencies: single center: 12 years experience. Dig Dis. 2019;37(1):45–52. doi: 10.1159/000492569.
- Kim ES, Kim D, Yoon Y, et al. Needs for increased awareness of gastrointestinal manifestations in patients with human inborn errors of immunity. Front Immunol. 2021;12:698721. doi: 10.3389/fimmu.2021.698721.
- Fodil N, Langlais D, Gros P. Primary immunodeficiencies and inflammatory disease: a growing genetic intersection. Trends Immunol. 2016;37(2):126–140. doi: 10.1016/j.it.2015.12.006.
- Jeffrey Modell Foundation. ; 2024 Primary immunodeficiency resource centre. [cited 2024 Jan 15]. Available from: https://res.cloudinary.com/info4pi/image/upload/v1662306263/JMF_10_Signs_Illustrated_ENGLISH_082421_v1_a6bb7981cb.pdf?updated_at=2022-09-04T15:44:24.369Z
- Agarwal S, Mayer L. Diagnosis and treatment of gastrointestinal disorders in patients with primary immunodeficiency. Clin Gastroenterol Hepatol. 2013;11(9):1050–1063. doi: 10.1016/j.cgh.2013.02.024.
- Girault D, Goulet O, Le Deist F, et al. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency. J Pediatr. 1994;125(1):36–42. doi: 10.1016/s0022-3476(94)70118-0.
- Fabre A, Bourgeois P, Chaix C, et al. Trichohepatoenteric syndrome. In: Adam MP, Feldman J, Mirzaa GM, editors. GeneReviews(®). Seattle (WA): University of Washington; 1993.
- Busoni VB, Lemale J, Dubern B, et al. IBD-like features in syndromic diarrhea/trichohepatoenteric syndrome. J Pediatr Gastroenterol Nutr. 2017;64(1):37–41. doi: 10.1097/MPG.0000000000001218.
- Nambu R, Warner N, Mulder DJ, et al. A systematic review of monogenic inflammatory bowel disease. Clin Gastroenterol Hepatol. 2022;20(4):e653–e663. doi: 10.1016/j.cgh.2021.03.021.
- Nameirakpam J, Rikhi R, Rawat SS, et al. Genetics on early onset inflammatory bowel disease: an update. Genes Dis. 2020;7(1):93–106. doi: 10.1016/j.gendis.2019.10.003.
- Chandrakasan S, Venkateswaran S, Kugathasan S. Nonclassic inflammatory bowel disease in young infants: immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and other disorders. Pediatr Clin North Am. 2017;64(1):139–160. doi: 10.1016/j.pcl.2016.08.010.
- Schäppi MG, Smith VV, Goldblatt D, et al. Colitis in chronic granulomatous disease. Arch Dis Child. 2001;84(2):147–151. doi: 10.1136/adc.84.2.147.
- Marciano BE, Rosenzweig SD, Kleiner DE, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114(2):462–468. doi: 10.1542/peds.114.2.462.
- Fernandez-Santamaria R, Satitsuksanoa P. Engineered IL-10: a matter of affinity. Allergy. 2022;77(3):1067–1069. doi: 10.1111/all.15132.
- 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(2):347–355. doi: 10.1053/j.gastro.2012.04.045.
- Atarod L, Raissi A, Aghamohammadi A, et al. A review of gastrointestinal disorders in patients with primary antibody immunodeficiencies during a 10-year period (1990-2000), in children hospital medical center. Iran J Allergy Asthma Immunol. 2003;2(2):75–79.
- Resnick ES, Moshier EL, Godbold JH, et al. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650–1657. doi: 10.1182/blood-2011-09-377945.
- Gathmann B, Mahlaoui N, Gérard L, et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;134(1):116–126. doi: 10.1016/j.jaci.2013.12.1077.
- Sanchez DA, Rotella K, Toribio C, et al. Characterization of infectious and non-infectious gastrointestinal disease in common variable immunodeficiency: analysis of 114 patient cohort. Front Immunol. 2023;14:1209570. doi: 10.3389/fimmu.2023.1209570.
- Agarwal S, Cunningham-Rundles C. Gastrointestinal manifestations and complications of primary immunodeficiency disorders. Immunol Allergy Clin North Am. 2019;39(1):81–94. doi: 10.1016/j.iac.2018.08.006.
- Vinh DC, Patel SY, Uzel G, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010;115(8):1519–1529. doi: 10.1182/blood-2009-03-208629.
- Huang X, Wu B, Wu D, et al. Case Report: missing zinc finger domains: hemophagocytic lymphohistiocytosis in a GATA2 deficiency patient triggered by non-tuberculous mycobacteriosis. Front Immunol. 2023;14:1191757. doi: 10.3389/fimmu.2023.1191757.
- Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653–2655. doi: 10.1182/blood-2011-05-356352.