{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Klemann C"],"funding":["Bundesministerium für Bildung und Forschung","European Research Council"],"pagination":["52-6"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6101191"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["164"],"pubmed_abstract":["NF-κB essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. We report a family with NEMO deficiency, in which a female carrier displayed skewed X-inactivation favoring the mutant NEMO allele associated with symptoms of Behçet's disease. Hematopoietic stem cell transplantation of an affected boy from this donor reconstituted an immune system with retained skewed X-inactivation. After transplantation no more severe infections occurred, indicating that an active wild-type NEMO allele in only 10% of immune cells restores host defense. Yet he developed inflammatory bowel disease (IBD). While gut infiltrating immune cells stained strongly for nuclear p65 indicating restored NEMO funct"],"journal":["Clinical immunology (Orlando, Fla.)"],"pubmed_title":["Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency."],"pmcid":["PMC6101191"],"funding_grant_id":["BMBF 01 EO 0803","323040"],"pubmed_authors":["Ehl S","Rizzi M","Rohr JC","Speckmann C","Vlantis K","Vraetz T","Pasparakis M","Klemann C","Uhlig H","Strahm B","Morris-Rosendahl DJ","Pannicke U","Schwarz K"],"additional_accession":[]},"is_claimable":false,"name":"Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.","description":"NF-κB essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. We report a family with NEMO deficiency, in which a female carrier displayed skewed X-inactivation favoring the mutant NEMO allele associated with symptoms of Behçet's disease. Hematopoietic stem cell transplantation of an affected boy from this donor reconstituted an immune system with retained skewed X-inactivation. After transplantation no more severe infections occurred, indicating that an active wild-type NEMO allele in only 10% of immune cells restores host defense. Yet he developed inflammatory bowel disease (IBD). While gut infiltrating immune cells stained strongly for nuclear p65 indicating restored NEMO funct","dates":{"release":"2016-01-01T00:00:00Z","publication":"2016 Mar","modification":"2025-04-04T03:26:08.24Z","creation":"2019-03-26T23:51:57Z"},"accession":"S-EPMC6101191","cross_references":{"pubmed":["26812624"],"doi":["10.1016/j.clim.2016.01.010"]}}