Open AccessWD Repeat Domain 1 ( WDR1 ) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease
Author(s) -
Millstead Jenna,
Kamat Aarti,
Duffner Ulrich,
AbdelMageed Aly,
Freswick Peter,
Dickens David,
Stumph Jennifer,
Prokop Jeremy W.,
Hartog Nicholas L.
Publication year - 2020
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/mpg.0000000000002826
Subject(s) - medicine , hematochezia , inflammatory bowel disease , disease , exome sequencing , immunology , gastroenterology , pediatrics , phenotype , cancer , colorectal cancer , colonoscopy , biochemistry , chemistry , gene
Infantile and very early onset inflammatory bowel disease (VEOIBD) are a rare phenomenon wherein patients develop intestinal inflammation with typical IBD symptoms before ages 2 and 6, respectively. In recent years, there has been an increasing number of monogenetic immunological disorders identified that lead a child to develop VEOIBD. We present a case of an infant boy who presented with hematochezia and thrombocytopenia in the first week of life and developed IBD by the age of 1 month. Additional clues to his diagnosis included lymphopenia and nuclear herniation observed in his neutrophils. Compound heterozygous damaging variants were identified in WD Repeat Domain 1 ( WDR1 ) by whole‐exome sequencing (WES) and represents a novel cause of VEOIBD. Our patient's IBD and immunologic phenotype was successfully treated by hematopoietic stem cell transplant (HSCT).