Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Immunologic Research
Published in: Immunologic Research 4-5/2019

01-10-2019 | Infliximab | Brief Report

Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency

Authors: Hasibe Artac, Ayca Emsen, Hulya Ucaryilmaz, Halil Haldun Emiroglu, Vedat Uygun, Asbjørg Stray-Pedersen

Published in: Immunologic Research | Issue 4-5/2019

Login to get access

Excerpt

X-linked ectodermal dysplasia with immunodeficiency (X-EDA-ID) is a rare disease caused by hypomorphic mutation in the gene encoding nuclear factor-κB (NF-κB) essential modulator (NEMO) [1‐3]. Boys affected with X-EDA-ID have severely impaired host defense, are prone to life-threatening infections, and have susceptibility to atypical mycobacteria. They have also increase risk of inflammatory diseases, in particular inflammatory colitis. NEMO colitis usually occurs early in childhood, causes intractable diarrhea that is difficult to control, and is life-threatening. …
Literature
1.
Hanson EP, et al. Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169–1177.e16.CrossRef
2.
Aradhya S, Courtois G, Rajkovic A, Lewis RA, Levy M, Israël A, et al. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma). Am J Hum Genet. 2001;68:765–71.CrossRef
3.
Pannicke U, Baumann B, Fuchs S, Henneke P, Rensing-Ehl A, Rizzi M, et al. Deficiency of ınnate and acquired ımmunity caused by an IKBKB mutation. N Engl J Med. 2013;369:2504–14.CrossRef
4.
Klemann C, Pannicke U, Morris-Rosendahl DJ, Vlantis K, Rizzi M, Uhlig H, et al. Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency. Clin Immunol. 2016;164:52–6.CrossRef
5.
Tegtmeyer D, Seidl M, Gerner P, Baumann U, Klemann C. Inflammatory bowel disease caused by primary immunodeficiencies-clinical presentations, review of literature, and proposal of a rational diagnostic algorithm. Pediatr Allergy Immunol. 2017;28:412–29.CrossRef
6.
Toussi SS, Pan N, Walters HM, Walsh TJ. Infections in children and adolescents with juvenile idiopathic arthritis and inflammatory bowel disease treated with tumor necrosis factor-α inhibitors: systematic review of the literature. Clin Infect Dis. 2013;57:1318–30.CrossRef
7.
Kelsen JR, Grossman AB, Pauly-Hubbard H, Gupta K, Baldassano RN, Mamula P. Infliximab therapy in pediatric patients 7 years of age and younger. J Pediatr Gastroenterol Nutr. 2014;59:758–62.CrossRef
8.
Mizukami T, Obara M, Nishikomori R, Kawai T, Tahara Y, Sameshima N, et al. Nunoi H. Successful treatment with infliximab for inflammatory colitis in a patient with X-linked anhidrotic ectodermal dysplasia with immunodeficiency. J Clin Immunol. 2012;32:39–49.CrossRef
9.
Yang J, Cheuk DK, Ha SY, Chiang AK, Lee TL, Ho MH, et al. Infliximab for steroid refractory or dependent gastrointestinal acute graft-versus-host disease in children after allogeneic hematopoietic stem cell transplantation. Pediatr Transplant. 2012;16:771–8.CrossRef
10.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, et al. Primary immunodeficiency diseases: genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017;139:232–45.CrossRef
11.
Nenci A, Becker C, Wullaert A, Gareus R, van Loo G, Danese S, et al. Epithelial NEMO links innate immunity to chronic intestinal inflammation. Nature. 2007;446:557–61.CrossRef
12.
Fish JD, Duerst RE, Gelfand EW, Orange JS, Bunin N. Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. Bone Marrow Transplant. 2009;43:217–21.CrossRef
13.
Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, et al. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations. Blood. 2017;130:1456–67.CrossRef
14.
Nenci A, Huth M, Funteh A, Schmidt-Supprian M, Bloch W, Metzger D, et al. Skin lesion development in a mouse model of incontinentia pigmenti is triggered by NEMO deficiency in epidermal keratinocytes and requires TNF signaling. Hum Mol Genet. 2006;15:531–42.CrossRef
Metadata
Title
Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency
Authors
Hasibe Artac
Ayca Emsen
Hulya Ucaryilmaz
Halil Haldun Emiroglu
Vedat Uygun
Asbjørg Stray-Pedersen
Publication date
01-10-2019
Publisher
Springer US
Published in
Immunologic Research / Issue 4-5/2019
Print ISSN: 0257-277X
Electronic ISSN: 1559-0755
DOI
https://doi.org/10.1007/s12026-019-09100-z

Other articles of this Issue 4-5/2019

Immunologic Research 4-5/2019 Go to the issue

Brief report

X-linked hyper-IgM syndrome complicated with interstitial pneumonia and liver injury: a new mutation locus in the CD40LG gene

Original Article

The impact of combining educational program with the improving of infrastructure to diagnose on early detection of primary immunodeficiencies in children

Original Article

The sialoglycan-Siglec-E checkpoint axis in dexamethasone-induced immune subversion in glioma-microglia transwell co-culture system

Interpretive Synthesis Review Article

The epipharynx-kidney axis triggers glomerular vasculitis in immunoglobulin A nephropathy

Original Article

Comparison of immunomodulatory properties of exosomes derived from bone marrow mesenchymal stem cells and dental pulp stem cells

Original Article

Combined prime-boost immunization with systemic and mucosal pneumococcal vaccines based on Pneumococcal surface protein A to enhance protection against lethal pneumococcal infections