The clinical spectrum of inflammatory Bowel disease associated with specific genetic syndromes: two novel pediatric cases and a systematic review
Open accessAbstract
Background and Aims:Inflammatory bowel disease (IBD) is a typical polygenic disorder and less frequently shows a monogenic origin. Furthermore, IBD can originate in the context of specific genetic syndromes associated with a risk of autoimmune disorders. We aimed to systematically evaluate the prevalence of IBD in specific genetic syndromes and to review the clinical characteristics of the published cases. Methods:According to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, studies describing patients with IBD and a genetic syndrome and/or studies indicating the prevalence or incidence of IBD in subjects with a genetic syndrome were included. Results:Forty-six studies describing a total of 67 cases of IBD in six genetic syndromes and two personally assessed unpublished cases were included in the review. The majority of cases were associated with Turner syndrome (TS) (38 cases), Down syndrome (DS) (18 cases) and neurofibromatosis type 1 (NF1) (8 cases). Sporadic cases were described in DiGeorge syndrome (2), Kabuki syndrome (2), and Williams syndrome (1). The prevalence of IBD ranged from 0.67 to 4% in TS and from 0.2 to 1.57% in DS. The incidence of IBD was increased in TS and DS compared to the general population. Eight cases of IBD in TS had a severe/lethal course, many of which described before the year 2000. Two IBD cases in DS were particularly severe. Conclusion:Evidence of a greater prevalence of IBD is accumulating in TS, DS, and NF1. Management of IBD in patients with these genetic conditions should consider the presence of comorbidities and possible drug toxicities. Systematic Review Registration: PROSPERO, identifier: CRD42021249820
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
IBD in TS may present at a younger age (mean 17.8 ± 2.3 years, range 3-41 years).
“IBD in TS may also present at a younger age (mean 17.8 ± 2.3 years, range 3-41 years),728 be more severe,729 and/or have unique treatment complications,732 although there is likely reporting bias.”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [729]
A previous systematic review reported a prevalence range of IBD in TS between 0.67% and 4%.
“A 2023 meta-analysis found an increased expressivity of IBD in TS of 1.86% (95% CI 1.48%-2.34%),728 congruent with the findings in a previous systematic review reporting a prevalence range between 0.67% and 4%.729”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [729]
A systematic review of 25 cases in the literature found equal distribution of IBD between monosomy and structurally abnormal X chromosomes.
“Unlike previous studies reporting higher rates of IBD among patients with isochromosome Xq karyotype,730,731 a systematic review of 25 cases in the literature found equal distribution between monosomy and structurally abnormal X chromosomes.729”
From Clinical practice guidelines for the care of girls and women with Turner syndrome. (2024) · cites this paper as [729]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
1 retracted
MiR-195 alleviates ulcerative colitis in rats via MAPK signaling pathway.
Bai, X.-S., Bai, G., Tang, L.-D., et al. (2020) · PubMed · doi:10.26355/eurrev_202003_20533 · Cited by 22 · see citing works
RetractedPreferred Reporting Items for Systematic Reviews and Meta-Analyses: the PRISMA statement
Moher, D., Liberati, A., Tetzlaff, J., Altman, D. G., & for the PRISMA Group (2009) · BMJ · doi:10.1136/bmj.b2535 · Cited by 83,823 · see citing works
Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement
Moher, D., Liberati, A., Tetzlaff, J., Altman, D. G., & the PRISMA Group* (2009) · Annals of Internal Medicine · doi:10.7326/0003-4819-151-4-200908180-00135 · Cited by 37,554 · see citing works
Liberati, A., Altman, D. G., Tetzlaff, J., Mulrow, C., Gøtzsche, P. C., Ioannidis, J. P. A., Clarke, M., Devereaux, P. J., Kleijnen, J., & Moher, D. (2009) · PLoS Medicine · doi:10.1371/journal.pmed.1000100 · Cited by 28,164 · see citing works
Liberati, A., Altman, D. G., Tetzlaff, J., Mulrow, C., Gotzsche, P. C., Ioannidis, J. P. A., Clarke, M., Devereaux, P. J., Kleijnen, J., & Moher, D. (2009) · BMJ · doi:10.1136/bmj.b2700 · Cited by 17,648 · see citing works
Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease
The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722 · see citing works
Liu, J. Z., van Sommeren, S., Huang, H., Ng, S. C., Alberts, R., Takahashi, A., Ripke, S., Lee, J. C., Jostins, L., Shah, T., et al. (2015) · Nature Genetics · doi:10.1038/ng.3359 · Cited by 2,603 · see citing works
de Lange, K. M., Moutsianas, L., Lee, J. C., Lamb, C. A., Luo, Y., Kennedy, N. A., Jostins, L., Rice, D. L., Gutierrez-Achury, J., Ji, S.-G., et al. (2017) · Nature Genetics · doi:10.1038/ng.3760 · Cited by 1,445 · see citing works
Beaugerie, L., Brousse, N., Bouvier, A., Colombel, J. F., Lémann, M., Cosnes, J., Hébuterne, X., Cortot, A., Bouhnik, Y., Gendre, J., et al. (2009) · The Lancet · doi:10.1016/s0140-6736(09)61302-7 · Cited by 1,113 · see citing works
Risks of leukaemia and solid tumours in individuals with Down's syndrome
Hasle, H., Clemmensen, I. H., & Mikkelsen, M. (2000) · The Lancet · doi:10.1016/s0140-6736(99)05264-2 · Cited by 898 · see citing works
The Medical Management of Paediatric Crohn’s Disease: an ECCO-ESPGHAN Guideline Update
van Rheenen, P. F., Aloi, M., Assa, A., Bronský, J., Escher, J. C., Fagerberg, U. L., Gasparetto, M., Gerasimidis, K., Griffiths, A. M., Henderson, P., et al. (2020) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjaa161 · Cited by 756 · see citing works
Lemaître, M., Kirchgesner, J., Rudnichi, A., Carrat, F., Zureik, M., Carbonnel, F., & Dray‐Spira, R. (2017) · JAMA · doi:10.1001/jama.2017.16071 · Cited by 577 · see citing works
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J. (1998) · Journal of Clinical Epidemiology · doi:10.1016/s0895-4356(97)00237-0 · Cited by 548 · cited 1× · see citing works
“(23) 1998 Cross-sectional study 594 females with TS 4/594 with IBD Prevalence of IBD in TS: 0.”
BackgroundEuropean Evidence-based Consensus: Inflammatory Bowel Disease and Malignancies
Annese, V., Beaugerie, L., Egan, L. J., Biancone, L., Bolling, C., Brandts, C., Dierickx, D., Dummer, R., Fiorino, G., Gornet, J. M., et al. (2015) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjv141 · Cited by 428 · see citing works
Turner's Syndrome in Adulthood
Elsheikh, M., Dunger, D. B., Conway, G. S., & Wass, J. A. H. (2002) · Endocrine Reviews · doi:10.1210/edrv.23.1.0457 · Cited by 397 · see citing works
Iversen, L. (1982) · The Lancet · doi:10.1016/s0140-6736(82)90876-5 · Cited by 392 · see citing works
Key role of mast cells and their major secretory products in inflammatory bowel disease
He, S. (2004) · World Journal of Gastroenterology · doi:10.3748/wjg.v10.i3.309 · Cited by 264 · see citing works
Buitenkamp, T., Izraeli, S., Zimmermann, M., Forestier, E., Heerema, N. A., van den Heuvel‐Eibrink, M. M., Pieters, R., Korbijn, C., Silverman, L. B., Schmiegelow, K., et al. (2013) · Blood · doi:10.1182/blood-2013-06-509463 · Cited by 248 · see citing works
Role of Thiopurine and Anti-TNF Therapy in Lymphoma in Inflammatory Bowel Disease
Herrinton, L. J., Liu, L., Weng, X., Lewis, J. D., Hutfless, S. M., & Allison, J. E. (2011) · The American Journal of Gastroenterology · doi:10.1038/ajg.2011.283 · Cited by 227 · see citing works
Cancers and immune related diseases associated with Down's syndrome: a record linkage study
Goldacre, M. J. (2004) · Archives of Disease in Childhood · doi:10.1136/adc.2003.046219 · Cited by 179 · see citing works
Autoimmune diseases in women with Turner's Syndrome
Jørgensen, K. T., Rostgaard, K., Bache, I., Biggar, R. J., Nielsen, N. M., Tommerup, N., & Frisch, M. (2010) · Arthritis & Rheumatism · doi:10.1002/art.27270 · Cited by 176 · see citing works
Ras regulation and function in lymphocytes
Genot, E. M., & Cantrell, D. A. (2000) · Current Opinion in Immunology · doi:10.1016/s0952-7915(00)00089-3 · Cited by 175 · see citing works
Clinical Genomics in Inflammatory Bowel Disease
Uhlig, H. H., & Muise, A. M. (2017) · Trends in Genetics · doi:10.1016/j.tig.2017.06.008 · Cited by 146 · see citing works
Bakalov, V. K., Gutin, L. S., Cheng, C. M., Zhou, J., Sheth, P., Shah, K. R., Arepalli, S., Vanderhoof, V. H., Nelson, L. M., & Bondy, C. A. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.01.015 · Cited by 140 · see citing works
Crohn’s Disease of the Esophagus: Clinical Features and Outcomes
Decker, G. A., Loftus, E. V., Pasha, T. M., et al. (2001) · Inflammatory Bowel Diseases · doi:10.1097/00054725-200105000-00006 · Cited by 132 · see citing works
The genetic background of inflammatory bowel disease: from correlation to causality
Venema, W. T. U., Voskuil, M. D., Dijkstra, G. D. H., Weersma, R. K., & Festen, E. A. M. (2016) · The Journal of Pathology · doi:10.1002/path.4817 · Cited by 126 · see citing works
Mast cells and the neurofibroma microenvironment
Staser, K. W., Yang, F., & Clapp, D. W. (2010) · Blood · doi:10.1182/blood-2009-09-242875 · Cited by 121 · see citing works
Blue Rubber Bleb Nevus Syndrome: Case Report and Review of the Literature
Moodley, M., & Ramdial, P. K. (1993) · PEDIATRICS · doi:10.1542/peds.92.1.160 · Cited by 104 · see citing works
DOWN SYNDROME AND ACUTE LEUKAEMIA: INCREASED RISK MAY BE DUE TO TRISOMY 21
Rowley, J. D. (1981) · The Lancet · doi:10.1016/s0140-6736(81)91218-6 · Cited by 91 · see citing works
Almeer, R., Mahmoud, S., Amin, H. K., et al. (2018) · Food and Chemical Toxicology · doi:10.1016/j.fct.2018.03.002 · Cited by 89 · see citing works
A high incidence of chronic inflammatory bowel disease in patients with Turner's syndrome.
Price, W. H. (1979) · Journal of Medical Genetics · doi:10.1136/jmg.16.4.263 · Cited by 85 · see citing works
O'Brien, M. M., Taub, J. W., Chang, M. N., Massey, G. V., Stine, K. C., Raimondi, S. C., Becton, D. L., Ravindranath, Y., & Dahl, G. V. H. (2008) · Journal of Clinical Oncology · doi:10.1200/jco.2007.13.2209 · Cited by 85 · see citing works
Topçu‐Tarladaçalışır, Y., Akpolat, M., Uz, Y. H., Kızılay, G., Sapmaz‐Metin, M., Çerkezkayabekir, A., & Ömürlü, İ. K. (2013) · Journal of Medicinal Food · doi:10.1089/jmf.2012.2550 · Cited by 83 · see citing works
Buitenkamp, T., Mathôt, R. A. A., de Haas, V., et al. (2010) · Haematologica · doi:10.3324/haematol.2009.019778 · Cited by 82 · see citing works
Feeding problems and gastrointestinal diseases in Down syndrome
Ravel, A., Mircher, C., Rebillat, A. S., et al. (2019) · Archives de Pédiatrie · doi:10.1016/j.arcped.2019.11.008 · Cited by 79 · see citing works
Down syndrome and leukemia: unusual clinical aspects and unexpected methotrexate sensitivity
Peeters, M. A., & Poon, A. (1987) · European Journal of Pediatrics · doi:10.1007/bf00444952 · Cited by 76 · see citing works
Wallace, R. A. (2007) · Journal of Intellectual & Developmental Disability · doi:10.1080/13668250601146761 · Cited by 64 · see citing works
Epigenetic control of the immune system: a lesson from Kabuki syndrome
Stagi, S., Gulino, A. V., Lapi, E., & Rigante, D. (2015) · Immunologic Research · doi:10.1007/s12026-015-8707-4 · Cited by 62 · see citing works
Inflammatory bowel disease and the X chromosome
HAYWARD, P., Satsangi, J., & Jewell, D. P. (1996) · QJM · doi:10.1093/qjmed/89.9.713 · Cited by 62 · see citing works
Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Margot, H., Boursier, G., Duflos, C., Sanchez, E., Amiel, J., Andrau, J., Arpin, S., Brischoux‐Boucher, E., Boute, O., Bürglen, L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0623-x · Cited by 60 · see citing works
The Association of Inflammatory Bowel Disease and X Chromosomal Abnormality
Arulanantham, K., Kramer, M. S., & Gryboski, J. D. (1980) · PEDIATRICS · doi:10.1542/peds.66.1.63 · Cited by 59 · see citing works
Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age
Casto, C., Pepe, G., Pomi, A. L., Corica, D., Aversa, T., & Wasniewska, M. G. (2021) · Genes · doi:10.3390/genes12020222 · Cited by 57 · see citing works
Lee, K. H., Ahn, B. S., Cha, D. H., et al. (2020) · Autoimmunity Reviews · doi:10.1016/j.autrev.2020.102469 · Cited by 55 · see citing works
Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome
Ferrari, M., & Stagi, S. (2021) · Genes · doi:10.3390/genes12020268 · Cited by 46 · see citing works
Palle, J., Frost, B., Peterson, C. O., et al. (2006) · Anti-Cancer Drugs · doi:10.1097/01.cad.0000198911.98442.16 · Cited by 45 · see citing works
Risk Factors for Lymphoma in Patients with Inflammatory Bowel Disease
Afif, W., Sandborn, W. J., Faubion, W. A., et al. (2013) · Inflammatory Bowel Diseases · doi:10.1097/mib.0b013e318281325e · Cited by 44 · see citing works
Blatt, J., Albo, V. C., Prin, W., et al. (1986) · The Lancet · doi:10.1016/s0140-6736(86)90429-0 · Cited by 43 · see citing works
Kroll, M., Kaupat-Bleckmann, K., Mörickel, A., et al. (2019) · Haematologica · doi:10.3324/haematol.2019.224774 · Cited by 43 · see citing works
Shi, C., Burgin, S. J. M., McDaniel, A. S., Li, X., Yuan, J., Chen, M., Khalaf, W. F., Clapp, D. W., & Yang, F. (2010) · American Journal Of Pathology · doi:10.2353/ajpath.2010.100369 · Cited by 42 · see citing works
Knudtzon, J., & Svane, S. (1988) · Acta Medica Scandinavica · doi:10.1111/j.0954-6820.1988.tb15887.x · Cited by 35 · see citing works
Lacaille, F., Canioni, D., Bernard, O., Fabrè, M., Brousse, N., & Schmitz, J. (1995) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/00005176-199511000-00017 · Cited by 35 · see citing works
Hefti, E., & Blanco, J. G. (2015) · Cardiovascular Toxicology · doi:10.1007/s12012-015-9307-1 · Cited by 34 · see citing works
Concurrent Ulcerative Colitis and Neurofibromatosis Type 1: The Question of a Common Pathway
Adams, W., Mitchell, L. T., Candelaria‐Santiago, R., et al. (2016) · PEDIATRICS · doi:10.1542/peds.2015-0973 · Cited by 34 · see citing works
Arafa, E. A., Mohamed, W. R., Zaher, D. M., et al. (2020) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2020.114919 · Cited by 33 · see citing works
Sokol, L., Stueben, E. T., Jaikishen, J. P., & Lamarche, M. B. (2002) · American Journal of Hematology · doi:10.1002/ajh.10120 · Cited by 32 · see citing works
The Plexiform Neurofibroma Microenvironment
Yang, F., Staser, K. W., & Clapp, D. W. (2012) · Cancer Microenvironment · doi:10.1007/s12307-012-0115-x · Cited by 30 · see citing works
Crohn's disease in Turner's syndrome.
Kohler, J. A., & Grant, D. B. (1981) · BMJ · doi:10.1136/bmj.282.6268.950 · Cited by 28 · see citing works
Turner Syndrome and Inflammatory Bowel Disease
Weinrieb, I. J., Fineman, R. M., & Spiro, H. M. (1976) · New England Journal of Medicine · doi:10.1056/nejm197605272942207 · Cited by 26 · see citing works
Turner's syndrome and inflammatory bowel disease: a case report with immunologic studies.
Manzione, N. C., Kram, M. T., Kram, E., et al. (1988) · PubMed · Cited by 25 · see citing works
Hanew, K., Tanaka, T., Horikawa, R., Hasegawa, T., & Yokoya, S. (2018) · Endocrine Journal · doi:10.1507/endocrj.ej17-0401 · Cited by 23 · see citing works
Do mast cells play a pathogenetic role in neurofibromatosis type 1 and ulcerative colitis?
Baratelli, F. E., Le, M. D., Gershman, G. B., et al. (2014) · Experimental and Molecular Pathology · doi:10.1016/j.yexmp.2014.02.006 · Cited by 21 · see citing works
Immunological Profile and Autoimmunity in Turner Syndrome
Shankar, R. K. (2020) · Hormone Research in Paediatrics · doi:10.1159/000512904 · Cited by 21 · see citing works
Williams, E., Engel, E., Taft, P. D., et al. (1966) · Journal of Medical Genetics · doi:10.1136/jmg.3.1.51 · Cited by 20 · see citing works
Dang, I., Nelson, J. K., & DeVries, G. H. (2005) · Journal of Neuroscience Research · doi:10.1002/jnr.20648 · Cited by 20 · see citing works
Actis, G. C., & Pellicano, R. (2016) · PubMed · Cited by 20 · see citing works
Terajima, M., Inoue, T., Magari, K., Yamazaki, H., Higashi, Y., & Mizuhara, H. (2012) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2012.11.021 · Cited by 17 · see citing works
Baccichetti, C., Lenzini, E., & Pegoraro, R. (2005) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320370716 · Cited by 15 · see citing works
Thioguanine pharmacokinetics in induction therapy of children with acute myeloid leukemia
Palle, J., Frost, B., Curt, P., et al. (2008) · Anti-Cancer Drugs · doi:10.1097/cad.0b013e32831bc086 · Cited by 15 · see citing works
Association of Crohn disease and Turner syndrome
Keating, J., Ternberg, J. L., & Packman, R. (1978) · The Journal of Pediatrics · doi:10.1016/s0022-3476(78)80104-8 · Cited by 15 · see citing works
Diagnosis and Outcome of Oesophageal Crohn’s Disease
Rodrigues, R. V., Sladek, M., Katsanos, K. H., et al. (2019) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjz201 · Cited by 14 · see citing works
Keating, E., Kelleher, T. B., & Lahiff, C. (2020) · Inflammatory Bowel Diseases · doi:10.1093/ibd/izaa176 · Cited by 14 · see citing works
Coincidence or Causality: Celiac and Crohn Diseases in a Case of Turner Syndrome
Durusu, M., Gürlek, A., Şimşek, H., et al. (2005) · The American Journal of the Medical Sciences · doi:10.1097/00000441-200504000-00010 · Cited by 13 · see citing works
45,X/47,XY,+ 13 Mosaicism and Crohn's Disease
Knudtzon, J., Ledaal, P., MIDDELTHON‐MOE, M., et al. (1988) · Acta Paediatrica · doi:10.1111/j.1651-2227.1988.tb10784.x · Cited by 13 · see citing works
Gilbert‐Barness, E., Fox, T., Morrow, G., et al. (2004) · Fetal and Pediatric Pathology · doi:10.1080/15227950490423016 · Cited by 13 · see citing works
Co‐existing Coeliac and Inflammatory Bowel Disease in a Patient with Turner's Syndrome
Scobie, B. A. (1979) · Australian and New Zealand Journal of Medicine · doi:10.1111/j.1445-5994.1979.tb04148.x · Cited by 12 · see citing works
Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia
Ho, J., Fox, D. A., Innes, A. M., McLeod, R., Butzner, D., Johnson, N. A., Trevenen, C., Kendrick, V., & Cole, D. E. C. (2010) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2010.156 · Cited by 12 · see citing works
Vajro, P., Cucchiara, S., Vegnente, A., et al. (1998) · Digestive Diseases and Sciences · doi:10.1023/a:1018800826608 · Cited by 12 · see citing works
Autoimmune Hepatobiliary Disease in Trisomy 21
Kaushik, S. P., Kaye, G., & Clarke, A. C. (2000) · Journal of Clinical Gastroenterology · doi:10.1097/00004836-200004000-00029 · Cited by 11 · see citing works
Tavakkoli, H., Asadi, M., Mahzouni, P., et al. (2009) · PubMed · Cited by 10 · see citing works
Inflammatory Bowel Disease and Diverticulosis in an Adolescent With DiGeorge Syndrome
Uy, R., Jacobs, N., & Mziray-Andrew, C. H. (2014) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000000497 · Cited by 10 · see citing works
Hashimoto's Thyroiditis and Ulcerative Colitis in a Patient With Turner's Syndrome
Nishimura, H. (1985) · JAMA · doi:10.1001/jama.1985.03360030047008 · Cited by 9 · see citing works
Down syndrome and Crohn’s disease: An extremely rare association
Peršić, M., Dessardo, S., Šubat-Dežulović, M., et al. (2001) · Pediatrics International · doi:10.1046/j.1442-200x.2001.01431.x · Cited by 9 · see citing works
Down's syndrome and inflammatory bowel disease: is there a real link?
Souto-Rodríguez, R., Acosta, M. B., & Domínguez‐Muñoz, J. E. (2014) · PubMed · Cited by 7 · see citing works
Turner Syndrome with Ulcerative Colitis
Hyodo, H., Tomita, Y., Hirai, K., Hirakawa, H., Ueno, S., & Ishiguro, H. (2009) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.18.101 · Cited by 6 · see citing works
Crohn's disease in a child with Down syndrome
Yamamoto, M., Abo, W., Hori, T., et al. (2002) · Pediatrics International · doi:10.1046/j.1442-200x.2002.01598.x · Cited by 6 · see citing works
Neurofibromatosis and Inflammatory Bowel Disease
Cameron, E., Raeburn, A., & Ford, M. J. (1989) · Scottish Medical Journal · doi:10.1177/003693308903400407 · Cited by 5 · see citing works
Pulmonary Crohn's Disease in Down Syndrome: A Link or Linkage Problem
Thaver, D., & Beg, M. (2016) · Case Reports in Gastroenterology · doi:10.1159/000445975 · Cited by 4 · see citing works
A Rare Case of Ulcerative Colitis with Neurofibromatosis Type 1
Fukunaga, S., Takedatsu, H., Mitsuyama, K., et al. (2017) · The Kurume Medical Journal · doi:10.2739/kurumemedj.ms00014 · Cited by 4 · see citing works
Paget's Disease with Benign Osteopetrosis and Crohn's Disease
HENDERSON, R. G., Long, P., AL‐NAFUSSI, A. I., et al. (1985) · Journal of the Royal Society of Medicine · doi:10.1177/014107688507800913 · Cited by 3 · see citing works
Triantafillidis, J. K., Nadia, E.-F., Fostira, F., et al. (2009) · Inflammatory Bowel Diseases · doi:10.1002/ibd.21125 · Cited by 3 · see citing works
Turner Syndrome Associated with Ulcerative Colitis
Takaya, J., Teraguchi, M., Ikemoto, Y., Yoshimura, K., Yamato, F., Higashino, H., Kobayashi, Y., & Kaneko, K. (2006) · Clinical Pediatric Endocrinology · doi:10.1297/cpe.15.97 · Cited by 3 · see citing works
Regional enteritis and Down's syndrome.
Jn, B., & Kelly, K. A. (1971) · PubMed · Cited by 3 · see citing works
Efficacy of Vedolizumab for Inflammatory Bowel Disease in the Setting of DiGeorge Syndrome
Thau, E., Moore, H., Stein, P., et al. (2019) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000002322 · Cited by 2 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Clinical practice guidelines for the care of girls and women with Turner syndrome.
Gravholt, C. H., Andersen, N. H., Christin-Maitre, S., Davis, S. M., Duijnhouwer, A., Gawlik, A., Maciel-Guerra, A. T., Gutmark-Little, I., Fleischer, K., Hong, D., et al. (2024) · European Journal of Endocrinology · doi:10.1093/ejendo/lvae050 · Cited by 224 · see citing works
Dirvanskyte, P., Gurram, B., Bolton, C., Warner, N., Jones, K. D. J., Griffin, H. R., Genomics England Research Consortium, Park, J. Y., Keller, K.-M., Gilmour, K. C., et al. (2023) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjac103 · Cited by 6 · see citing works
- Authors
- Gatti, S., Gelzoni, G., Catassi, G. N., & Catassi, C.
- Affiliations
- Marche Polytechnic University (IT)
- Policlinico Umberto I (IT)
- Corresponding author
- Gatti, Simona
- Venue
- Frontiers in Pediatrics
- Publisher
- Frontiers Media SA
- Published
- 2021-10-26
- Volume
- 9
- Pages
- 742830-742830
- ISSN
- 2296-2360 (ISSN-L)
- PMC
- PMC8576358
- OpenAlex
- W3208554578
- Cited by
- 14
- References
- 93
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 3
- FWCI
- 0.29
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Frontiers in Pediatrics (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Università Politecnica delle Marche (Università Politecnica delle Marche) (submittedVersion, cc-by)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Inflammatory Bowel Disease
- Health Sciences › Medicine › Ophthalmology › Ocular Diseases and Behçet’s Syndrome
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- inflammatory bowel disease, genetic syndromes, Turner syndrome, Down syndrome, neurofibromatosis type 1, 22q11.2 deletion syndrome, Kabuki syndrome, Williams syndrome, IBD prevalence, IBD incidence, pediatric patients, autoimmune disease comorbidity, drug toxicity
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
