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Very Early Onset Inflammatory Bowel Disease (VEOIBD)

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Textbook of Autoinflammation

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Abstract

Inflammatory bowel disease (IBD) is a chronic gastrointestinal tract disorder with many clinical presentations. The most common forms of IBD are ulcerative colitis, Crohn disease, and overlapping disease termed IBD unclassified (IBDU). In general, IBD is considered a complex disease with contributions from genetics (polygenic), an abnormal immune response and the microbiome, and unknown environmental factors. Recently, there has been a world-wide increase in the incidence of IBD including in developing countries. In developed nations, the biggest increase is observed in children, especially very young children who develop the disease before 6 years of age (very early onset IBD—VEOIBD). Recent genetic studies have shown that some VEOIBD patients will have monogenic forms of IBD and these are described in this chapter.

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Abbreviations

ARPC:

Actin-related protein complex

CD:

Crohn disease

CGD:

Chronic granulomatous disease

CMPI:

Cow’s milk protein intolerance

CTLA4:

Cytotoxic T-lymphocyte-associated protein 4

DUOX:

Dual oxidase

GWAS:

Genome-wide association studies

HLH:

Hemophagocytic lymphohistiocytosis

IBD:

Inflammatory bowel disease

IBDU:

IBD undetermined

IPEX:

Imunodysregulation polyendocrinopathy, enteropathy X-linked

LRBA:

Lipopolysaccharide-responsive and beige-like anchor

NADPH:

Nicotinamide adenine dinucleotide phosphate

NF-ÎşB:

Nuclear factor kappa B

NLRC4:

NOD-like receptors caspase containing 4

NO:

Nitric oxide

NOD2:

Nucleotide-binding oligomerization domain-containing protein 2

NOS:

Nitric oxide synthase

NOX:

NADPH oxidase

PID:

Primary immunodeficiency

ROS:

Reactive oxygen species

SNP:

Single nucleotide polymorphism

TRIM22:

Tripartite motif-containing 22

TTC7A:

Tetratricopeptide repeat domain 7

UC:

Ulcerative colitis

VEOIBD:

Very early onset inflammatory bowel disease

XIAP:

X-linked inhibitor of apoptosis

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Authors and Affiliations

  1. University of Toronto, Toronto, ON, Canada

    Aleixo M. Muise

  2. Cell Biology, Research Institute, SickKids Inflammatory Bowel Disease Centre, The Hospital for Sick Children, Toronto, ON, Canada

    Aleixo M. Muise

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  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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Muise, A.M. (2019). Very Early Onset Inflammatory Bowel Disease (VEOIBD). In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_21

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