Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
Daniel TegtmeyerChristian Klemann

Abstract

Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases have been described to present often primarily, or solely, as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs. Here, we discuss the different clinical presentations in IBD and characteristic features of patient's history, clinical findings, and diagnostic results indicative for a causative PID. Possible predictors are early onset of disease, necessity of parenteral nutrition, failure to respond to standard immunosuppressive therapy, parental consanguinity, increased susceptibility for infections, certain histopathologic findings, and blood tests that are atypical for classic IBD. We illustrate this with exemplary case studies of IBD due to NEMO deficiency, chronic granulomatous disease, common variable immunodeficiency, CTLA-4 and LRBA deficiency. Taking these factors into account, we propos...Continue Reading

References

Mar 1, 1992·The Journal of Clinical Investigation·G de Saint-BasileA Fischer
Oct 1, 1996·The American Journal of Surgical Pathology·K WashingtonM R Gottfried
Jul 1, 1997·The Journal of Pediatrics·J LevyL D Notarangelo
Jul 22, 1999·Clinical Immunology : the Official Journal of the Clinical Immunology Society·C Cunningham-Rundles, C Bodian
May 3, 2000·Clinical and Experimental Immunology·L HammarströmD Webster
Mar 20, 2001·The Journal of Immunology : Official Journal of the American Association of Immunologists·J W WangW G Kerr
Jan 17, 2002·Current Treatment Options in Gastroenterology·Robert P. McCabe
Mar 8, 2002·Annals of Surgery·Matthew LublinSteven M Holland
Dec 10, 2003·Medicine·Jerry A WinkelsteinMary Ellen Conley
Jan 22, 2004·Current Opinion in Immunology·Anne PuelJean-Laurent Casanova
Jul 13, 2004·Zeitschrift für Gastroenterologie·Z LieschW H Reinhart
Aug 3, 2004·Pediatrics·Beatriz E MarcianoSteven M Holland
Jan 22, 2005·Annals of the New York Academy of Sciences·Sylvie DelhalleMarc Diederich
Jun 11, 2005·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Francisco A BonillaUNKNOWN Joint Council of Allergy, Asthma and Immunology
Apr 18, 2006·Proceedings of the National Academy of Sciences of the United States of America·Marc A GavinAlexander Y Rudensky
Jun 3, 2006·The Journal of Clinical Investigation·Rosa BacchettaMaria Grazia Roncarolo
Jul 25, 2006·Medicine·Jerry A WinkelsteinHans D Ochs
Nov 3, 2006·Nature·Stéphanie RigaudSylvain Latour
Mar 16, 2007·Nature·Arianna NenciManolis Pasparakis
Apr 14, 2007·Digestive Diseases and Sciences·Ahmad KhodadadNasser Ebrahimi Daryani
May 15, 2007·Lancet·Daniel C Baumgart, William J Sandborn
Jun 29, 2007·The New England Journal of Medicine·Bénédicte NevenAlain Fischer
Apr 19, 2008·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·Eric OksenhendlerUNKNOWN DEFI Study Group
Jul 22, 2008·Clinics in Dermatology·Shereen Timani, Diya F Mutasim
Sep 30, 2008·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Natacha Patey-Mariaud de SerreNicole Brousse
Dec 23, 2008·The American Journal of Gastroenterology·Daniel J B MarksAnthony W Segal
Mar 20, 2009·Medical Mycology·Brahm H Segal, Luigina R Romani
Apr 22, 2009·PloS One·J Merlijn van den BergTaco W Kuijpers
May 12, 2009·Immunological Reviews·Patrick F K YongBodo Grimbacher
Jun 17, 2009·Current Opinion in Gastroenterology·Martina E Spehlmann, Lars Eckmann
Jul 28, 2009·Journal of Pediatric Gastroenterology and Nutrition·Ingo BorggraefeThomas Lang
Aug 12, 2009·The Journal of Allergy and Clinical Immunology·Shradha Agarwal, Lloyd Mayer
Nov 6, 2009·The New England Journal of Medicine·Erik-Oliver GlockerChristoph Klein
Dec 17, 2009·The Journal of Allergy and Clinical Immunology·UNKNOWN International Union of Immunological Societies Expert Committee on Primary ImmunodeficienciesJosiah Wedgwood
Feb 26, 2010·Nature Reviews. Immunology·Adrian J Thrasher, Siobhan O Burns
Jun 17, 2010·The American Journal of Gastroenterology·Georgia MalamutChristophe Cellier
Oct 20, 2010·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Joyce E YuCharlotte Cunningham-Rundles
Oct 29, 2010·Nature·Gonçalo R AbecasisGil A McVean
Nov 19, 2010·Journal of Clinical Gastroenterology·Adrian J Mora, David M Wolfsohn

❮ Previous
Next ❯

Citations

Oct 13, 2017·Virchows Archiv : an International Journal of Pathology·Sarah E UmetsuGregory Y Lauwers
Aug 30, 2018·Current Opinion in Gastroenterology·Spyros I Siakavellas, Giorgos Bamias
Oct 10, 2018·Scandinavian Journal of Gastroenterology·Nóra Judit BéresEszter M Horváth
Nov 18, 2018·Archives of Pathology & Laboratory Medicine·Oluwatobi Odetola, Vijayalakshmi Ananthanarayanan
May 14, 2018·Clinical Reviews in Allergy & Immunology·Stella HartonoNicholas L Rider
Nov 13, 2019·Immunologic Research·Hasibe ArtacAsbjørg Stray-Pedersen
Aug 18, 2017·Current Opinion in Allergy and Clinical Immunology·Sara Ciullini Mannurita, Eleonora Gambineri
Oct 11, 2017·Expert Review of Gastroenterology & Hepatology·Valeria Dipasquale, Claudio Romano
Mar 14, 2019·Journal of Clinical Immunology·Tania SiahanidouMaria Kanariou
Sep 7, 2019·Expert Review of Gastroenterology & Hepatology·Patrizia AlvisiClaudio Romano
Jul 11, 2018·Frontiers in Immunology·Cristiane de Jesus Nunes-Santos, Sergio D Rosenzweig
Jul 29, 2020·International Journal of Molecular Sciences·Ida Judyta MaleszaPiotr Eder
May 3, 2019·Pediatrics in Review·Ivan K Chinn, Jordan S Orange
Mar 16, 2021·Frontiers in Immunology·Valentina BozMatteo Bramuzzo
Oct 22, 2020·Cell Reports·Cambrian Y LiuD Brent Polk
Apr 23, 2021·Pediatrics International : Official Journal of the Japan Pediatric Society·Mari MoritaKatsuhiro Arai
Jul 19, 2021·Journal of Crohn's & Colitis·Ahmad AlbsheshUri Kopylov
May 8, 2021·Journal of Crohn's & Colitis·Katja A SelinEduardo J Villablanca
Aug 31, 2021·World Journal of Gastrointestinal Oncology·Alexa R WeingardenJohn Gubatan

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.