IBD28 is a form of inflammatory bowel disease that is caused by mutations in the IL10RA gene. Onset of disease is usually within the first year of life, and is manifested in the form of severe enterocolitis, enteric fistula and perianal abscess.
Diseases of the digestive system
Autosomal recessive
11q23.3
IBD28 is a form of inflammatory bowel disease that is caused by mutations in the IL10RA gene. Onset of disease is usually within the first year of life, and is manifested in the form of severe enterocolitis, enteric fistula and perianal abscess.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 613148.1 | Lebanon | Female | No | Yes | Enterocolitis; Perianal abscess; Fistu... Enterocolitis; Perianal abscess; Fistula; Neonatal onset;  | NM_001558.3:c.421G>A | Homozygous | Autosomal, Recessive | Glocker et al, 2009 | |
| 613148.2 | Lebanon | Unknown | Yes | Microcytic anemia; Recurrent fever; Incr... Microcytic anemia; Recurrent fever; Increased inflammatory response; Reduced mevalonate kinase activity | NM_001558.4:c.172G>A | Heterozygous | Autosomal, Dominant | Jalkh et al. 2019 |