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  • Title: Very early-onset inflammatory bowel disease: an integrated approach.
    Author: Sullivan KE, Conrad M, Kelsen JR.
    Journal: Curr Opin Allergy Clin Immunol; 2018 Dec; 18(6):459-469. PubMed ID: 30299395.
    Abstract:
    PURPOSE OF REVIEW: Immune dysregulation disorders are among the most rapidly growing set of inborn errors of immunity. One particular subset is the category where early-onset inflammatory bowel disease (IBD) is the most common manifestation. These disorders are being increasingly appreciated although there has been minimal effort to articulate a unified approach to their diagnosis and management. This review will cover current thinking and strategies related to diagnosis and management of very early-onset IBD. RECENT FINDINGS: There is an expanding set of monogenic causes of early-onset IBD. In many cases, the precise genetic cause dictates management. Lessons learned from the management of these monogenic conditions can sometimes be extrapolated to other refractory cases of IBD. SUMMARY: An integrated approach to diagnosis, risk analysis, and management can include diagnostic approaches not often utilized for traditional IBD such as whole exome sequencing. Management can also include nontraditional approaches such as targeted biologics or hematopoietic cell transplantation.
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