A rare event in which individuals develop inflammation of the intestines, with characteristic symbols of IBD, before 2 and 6 years, is very young and at an extremely early beginning of inflammatory bowel disease. A growing number of monogenetic immunological diseases that induce a kid to develop VEOIBD have been found in recent years. Researchers describe a case of a child who in the first week of birth had Hematochezia and thrombocytopenia and had IBD at the age of 1 month. Lymphopenia and nuclear hernia, found in its neutrophils, were further additional evidence to his diagnosis.

In the WD Repeat Domain 1 (WDR1) full-exome sequencing (WES) compound heterozygous harmful mutations were discovered and are a new cause for VEOIBD. Hematopoietic stem cell transplant has successfully cured the IBD and immunological phenotype of our patient (HSCT).

Reference: https://journals.lww.com/jpgn/Abstract/2020/10000/WD_Repeat_Domain_1__WDR1__Deficiency_Presenting_as.21.aspx