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

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. Afte...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1016/j.clim.2016.01.010

Authors


Klemann, C More by this author
Pannicke, U More by this author
Morris-Rosendahl, DJ More by this author
Vlantis, K More by this author
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Publisher:
Elsevier Publisher's website
Journal:
Clinical immunology (Orlando, Fla.) Journal website
Volume:
164
Pages:
52-56
Publication date:
2016
DOI:
EISSN:
1521-7035
ISSN:
1521-6616
URN:
uuid:7581e636-3c94-4605-bbd6-a9019f2c694f
Source identifiers:
598028
Local pid:
pubs:598028

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