Adrian Martuszewski, Patrycja Paluszkiewicz, Katarzyna Sierżęga-Staykov, Elżbieta Wawrzyniak-Dzierżek, Małgorzata Salamonowicz-Bodzioch, Jowita Frączkiewicz, Małgorzata Janeczko-Czarnecka, Monika Mielcarek-Siedziuk, Mateusz Nowak, Nel Dąbrowska-Leonik, Beata Wolska-Kuśnierz, Katarzyna Gul, Katarzyna Bąbol-Pokora, Wojciech Młynarski, Krzysztof Kałwak, Marek Ussowicz
BACKGROUND: X-linked EDA-ID1 (ectodermal dysplasia, anhidrotic, with immunodeficiency 1, Online Mendelian Inheritance in Man [OMIM] 300291), or NEMO (nuclear factor kappa B essential modulator) deficiency syndrome, is caused by mutations in the IKBKG/NEMO gene. We report the case of a boy with EDA-ID1 who underwent allogeneic stem cell transplantation. METHODS: In early infancy, the patient developed an atypical, severe, initial manifestation resembling Omenn syndrome with infections, and he underwent allogeneic stem cell transplantation from an unrelated 9 of 10 HLA matched donor with a mismatch in the DQB1 allele after conditioning with treosulfan, fludarabine, thiotepa, and antithymocyte globulin (Grafalon)...
March 2020: Transplantation Proceedings