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Molecular diagnosis of infantile onset inflammatory bowel disease by exome sequencing

2013; Elsevier BV; Volume: 102; Issue: 5-6 Linguagem: Inglês

10.1016/j.ygeno.2013.08.008

1089-8646

Darrell L. Dinwiddie, Julia M. Bracken, Julie Bass, Kathy Christenson, Sarah Soden, Carol Saunders, Neil Miller, Vivekanand Singh, David L. Zwick, Charles C. Roberts, Jignesh Dalal, Stephen F. Kingsmore,

Whipple's Disease and Interleukins

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.