A child with homozygous partial deletion of the gene showed characteristic clinical findings of autosomal recessive hyper-IgE syndrome and full donor chimerism early after matched sibling bone marrow transplantation.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2998541 | PMC |
http://dx.doi.org/10.1016/j.jaci.2010.07.034 | DOI Listing |
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