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

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...

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Veröffentlicht in:	Journal of pediatric gastroenterology and nutrition 2020-10, Vol.71 (4), p.e113-e117
Hauptverfasser:	Millstead, Jenna, Kamat, Aarti, Duffner, Ulrich, Abdel‐Mageed, Aly, Freswick, Peter, Dickens, David, Stumph, Jennifer, Prokop, Jeremy W., Hartog, Nicholas L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Colitis hematopoietic stem cell transplant Humans immunodeficiency Infant infantile inflammatory bowel disease Inflammatory Bowel Diseases - complications Inflammatory Bowel Diseases - diagnosis Inflammatory Bowel Diseases - genetics Male Microfilament Proteins - deficiency Phenotype very early onset inflammatory bowel disease WD Repeat Domain 1 WD40 Repeats Whole Exome Sequencing
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