Immune dysregulation diseases are one of the most rapidly increasing subsets of inborn immune abnormalities. One subgroup is characterised by the most frequent symptom being early-onset inflammatory bowel disease (IBD). These diseases are becoming more recognised, but there has been little attempt to establish a uniform strategy to their diagnosis and therapy. This review will discuss current thinking and techniques for diagnosing and managing extremely early-onset IBD. There are an increasing number of monogenic reasons for early-onset IBD. In many situations, treatment is dictated by the specific genetic aetiology. Lessons acquired from treating these monogenic diseases can occasionally be applied to other refractory cases of IBD.

Diagnostic methods not commonly used for conventional IBD, such as whole exome sequencing, might be included in an integrated approach to diagnosis, risk analysis, and management. Nontraditional ways to management may also be used, such as targeted biologics or hematopoietic cell transplantation.