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. Afte...Expand abstract
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- Peer reviewed
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- Elsevier Inc.
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articletitle: Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency
journaltitle: Clinical Immunology
copyright: Copyright © 2016 Elsevier Inc. All rights reserved.
Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.
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