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Article

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

Clinical immunology (Orlando, Fla.) - 1 Mar 2016

Klemann Christian, Pannicke Ulrich, Morris-Rosendahl Deborah J, Vlantis Katerina, Rizzi Marta, Uhlig Holm, Vraetz Thomas, Speckmann Carsten, Strahm Brigitte, Pasparakis Manolis, Schwarz Klaus, Ehl Stephan, Rohr Jan C

Abstract excerpt

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...

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Identifiers

PMID: 26812624
DOI: 10.1016/j.clim.2016.01.010
PMCID: PMC6101191

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TNF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.PMID 26812624Read ↗

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