WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease

Jenna Millstead; Aarti Kamat; Ulrich Duffner; Aly Abdel-Mageed; Peter Freswick; David Dickens; Jennifer Stumph; Jeremy W Prokop; Nicholas L Hartog

doi:10.1097/MPG.0000000000002826

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WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease

Journal article

Open access

Peer reviewed

WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease

Jenna Millstead, Aarti Kamat, Ulrich Duffner, Aly Abdel-Mageed, Peter Freswick, David Dickens, Jennifer Stumph, Jeremy W Prokop and Nicholas L Hartog

Journal of pediatric gastroenterology and nutrition, Vol.71(4), pp.e113-e117

10/2020

DOI: 10.1097/MPG.0000000000002826

PMID: 32960541

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Abstract

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).

Colitis

Humans

Infant

Inflammatory Bowel Diseases - complications

Inflammatory Bowel Diseases - diagnosis

Inflammatory Bowel Diseases - genetics

Male

Microfilament Proteins - deficiency

Phenotype

WD40 Repeats

Whole Exome Sequencing

Details

Title: Subtitle: WD Repeat Domain 1 (WDR1) Deficiency Presenting as a Cause of Infantile Inflammatory Bowel Disease
Creators: Jenna Millstead - Michigan State University
Aarti Kamat - Helen DeVos Children's Hospital
Ulrich Duffner - Michigan State University
Aly Abdel-Mageed - Michigan State University
Peter Freswick - Michigan State University
David Dickens - University of Iowa
Jennifer Stumph - Michigan Pathology Specialists PC.
Jeremy W Prokop - Michigan State University
Nicholas L Hartog - Michigan State University
Resource Type: Journal article
Publication Details: Journal of pediatric gastroenterology and nutrition, Vol.71(4), pp.e113-e117
DOI: 10.1097/MPG.0000000000002826
PMID: 32960541
NLM abbreviation: J Pediatr Gastroenterol Nutr
ISSN: 0277-2116
eISSN: 1536-4801
Language: English
Date published: 10/2020
Academic Unit: Stead Family Department of Pediatrics; Hematology/Oncology
Record Identifier: 9984353801402771

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