Immunologic Research

, Volume 67, Issue 4–5, pp 450–453 | Cite as

Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency

  • Hasibe ArtacEmail author
  • Ayca Emsen
  • Hulya Ucaryilmaz
  • Halil Haldun Emiroglu
  • Vedat Uygun
  • Asbjørg Stray-Pedersen
Brief Report


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, 2, 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.

A hematopoietic stem cell transplantation (HSCT) reconstitutes the immune cells in NEMO deficiency, but it may worsen non-immune constitutional manifestations, in particular the colitis because of the associated mucosal/epithelial defects that remain after HSCT [4, 5]. TNFα blockage therapy was used as an effective treatment for the intractable NEMO colitis in a few cases [6, 7, 8, 9]. We report here a...



We profoundly thank Dr. Jordan Scott Orange for a great support to diagnose NEMO deficiency in the case.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Pediatric Immunology and AllergySelcuk University Medical FacultyKonyaTurkey
  2. 2.Department of Gastroenterology and HepatologySelcuk University Medical FacultyKonyaTurkey
  3. 3.Department of Pediatric Hematology and OncologyMedical Park Antalya HospitalAntalyaTurkey
  4. 4.Center for Human Immunobiology-Immunology-Allergy-RhematologyTexas Children Hospital-Baylor College of MedicineHoustonUSA

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