References
Maubach G, Naumann M. NEMO links nuclear factor-kappaB to human diseases. Trends Mol Med. 2017;23:1138–55.
Sajja SB, Middlesworth W, Niazi M, Schein M, Gerst PH. Duodenal atresia associated with proximal jejunal perforations: a case report and review of the literature. J Pediatr Surg. 2003;38:1396–8.
Hanson EP, Monaco-Shawver L, Solt LA, Madge LA, Banerjee PP, May MJ, et al. Hypomorphic nuclear factor-κB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity. J Allergy Clin Immunol. 2008;122:1169–77.e16.
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.
Pai SY, Levy O, Jabara HH, Glickman JN, Stoler-Barak L, Sachs J, et al. Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency. J Allergy Clin Immunol. 2008;122:1113–8.
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.
Acknowledgements
We thank Dr. Kohsuke Imai (Tokyo Medical and Dental University) and Dr. Osamu Ohara (Kazusa DNA Research Institution) for the genetic analysis.
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YM and TW performed the research and wrote the manuscript. SS made clinical contributions. YM and YA analyzed the data and provided a critical paper review. All authors approved the final manuscript.
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Approval for the study was obtained from the Human Research Committee of Kanazawa University Graduate School of Medical Science. Informed consent was provided according to the Declaration of Helsinki.
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The authors declare that they have no competing interests.
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Mitani, Y., Wada, T., Matsuda, Y. et al. XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations. J Clin Immunol 38, 733–735 (2018). https://doi.org/10.1007/s10875-018-0544-5
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DOI: https://doi.org/10.1007/s10875-018-0544-5