Abstract
Pediatric-onset inflammatory bowel disease (IBD) is known to be associated with severe disease, poor response to therapy, and increased morbidity and mortality. We conducted exome sequencing of two brothers from a non-consanguineous relationship who presented before the age of one with severe infantile-onset IBD, failure to thrive, skin rash, and perirectal abscesses refractory to medical management. We examined the variants discovered in all known IBD-associated and primary immunodeficiency genes in both siblings. The siblings were identified to harbor compound heterozygous mutations in IL10RA (c.784C>T, p.Arg262Cys; c.349C>T, p.Arg117Cys). Upon molecular diagnosis, the proband underwent successful hematopoietic stem cell transplantation and demonstrated marked clinical improvement of all IBD-associated clinical symptoms. Exome sequencing can be an effective tool to aid in the molecular diagnosis of pediatric-onset IBD. We provide additional evidence of the safety and benefit of HSCT for patients with IBD due to mutations in the IL10RA gene.
Original language | English (US) |
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Pages (from-to) | 442-447 |
Number of pages | 6 |
Journal | Genomics |
Volume | 102 |
Issue number | 5-6 |
DOIs | |
State | Published - Nov 2013 |
Keywords
- Colitis
- Crohn's disease
- Exome sequencing
- Hematopoietic stem cell transplantation
- IL10
- IL10RA
- Inflammatory bowel disease
ASJC Scopus subject areas
- Genetics