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Monogenic very-early onset inflammatory bowel disease (MVEOBD)

Baby Detect > Diseases Gastroenterology > Monogenic very-early onset inflammatory bowel disease (MVEOBD)

IL10RA and IL10RB genes

OMIM#612567 https://omim.org/entry/612567

1. The disease

Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel disease (monogenic IBD). Defects in interleukin-10 signaling have a Mendelian inheritance pattern with complete penetrance of intestinal inflammation. In many cases, these diseases cannot be categorized based on standard histological and immunologic features of IBD. Genetic analysis is required to identify the cause of the disorder and offer the patient appropriate treatment options, which include medical therapy, surgery, or allogeneic hematopoietic stem cell transplantation.

2. The symptoms

Patients with these disorders often develop symptoms during infancy or early childhood, along with endoscopic or histological features of Crohn’s disease, ulcerative colitis, or IBD unclassified. Lack of early signs or symptoms does not exclude the diagnosis.

  • Patients with mutations in IL10or IL10 receptor (IL10R) genes present with severe colitis, perianal disease and folliculitis manifesting in the first months of life.

3. Actions to take in case of early diagnosis

  • Infants with a positive genetic test (having 2 pathogenic variants or 2 copies of a single pathogenic variant in the referred genes) should continue breastfeeding.
  • MVEOBD is a lifelong condition that requires lifetime management and regular follow-up with a multidisciplinary approach to care, including pediatrics, gastroenterology, genetics, and nutrition.
  • Lifetime surveillance should be done with routine monitoring that includes digestory imaging and immunologic exams.
  • Patients with MVEOBD are often refractory to immunosuppressive therapies such as corticosteroids, methotrexate, thalidomide, and anti-tumor necrosis factor-alpha (TNF-α) antibodies.
  • Allogeneic hematopoietic stem cell transplantation (HSCT) has been shown to be curative in these conditions.
  • Genetic counseling is highly recommended for family planning and evaluation of at-risk family members such as siblings.

4. For more information

Orphanet: https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19277&Disease_Disease_Search_diseaseGroup=IL10RA&Disease_Disease_Search_diseaseType=Gen&Disease(s)/group%20of%20diseases=Immune-dysregulation-inflammatory-bowel-disease-arthritis-recurrent-infections-syndrome&title=Immune%20dysregulation-inflammatory%20bowel%20disease-arthritis-recurrent%20infections%20syndrome&search=Disease_Search_Simple

Biblio :

  • Uhlig HH, Schwerd T, Koletzko S, et al. The diagnostic approach to monogenic very early onset inflammatory bowel disease. Gastroenterology. 2014;147(5):990-1007.e3. PMID:25058236.
  • Crowley E, Warner N, Pan J, et al. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. Gastroenterology. 2020;158(8):2208-2220. PMID:32084423.
  • 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. Published 2016 Jan 28. PMID: 26822028.