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DIAGNOSIS

Dinwiddie DL, Bracken JM, Bass JA et al. Genomics 2013;102:442–7.

Dinwiddie and colleagues conducted whole-exome sequencing in a pair of non-consanguineous siblings with infantile-onset IBD. They successfully demonstrated compound heterozygous mutations in the interleukin-10 receptor α gene in both siblings and the successful treatment of otherwise refractory disease by a stem cell transplant in one of the siblings.

 

The success of gene discovery in IBD has been accelerated by recent advances in technology and more sophisticated techniques, resulting in descriptions of many more candidate IBD genes [1]. While these discoveries have been helpful in advancing our understanding of IBD pathophysiology, they have, as a whole, lacked direct translation into clinical practice. The unique attributes of infantile IBD are such that, as a group, patients have a more severe and in many ways a different type of IBD than patients who develop the disease when older. Some very young children aged <1 year have a more systemic inflammatory syndrome in which bowel inflammation is just one feature and, as such, do not really have “classical” IBD. However, what the present two cases and others have nicely demonstrated is that IBD in its earliest and sometimes most severe form can be inherited as a monogenic disorder, as demonstrated using newer techniques such as whole-exome sequencing to identify mutations in interleukin-10 (IL-10) and the IL-10 receptor [2–4]. This has led to successful clinical translation, with stem cell transplantation in these children who otherwise had medically (and often surgically) refractory disease.

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