Infliximab therapy for inflammatory colitis in an infant with NEMO deficiency
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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.
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Conflict of interest
The authors declare that they have no conflict of interest.