A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation
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To the Editor:
Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is a rare severe form of immunodeficiency, which shows deficits in both the innate and acquired immunity because of the impaired NF-κβ signal transduction pathway . There are two types of EDA-ID, one is an X-linked form with a defect in the IKBKG gene, and another is an autosomal dominant form with a defect in the IKBA gene. The latter involves a more severe defect and leads to intractable infections soon after birth. Patients are severely ill when the diagnosis is made and are rarely tolerant of a stem cell transplant (SCT) . We treated a severely malnourished infant with an autosomal dominant form of anhidrotic ectodermal dysplasia with immunodeficiency (AD-IDA-ID) who responded well to a stem cell transplant with a reduced-intensity conditioning (RIC) regimen and developed properly with a stable low donor chimerism for more than 5 years.
KeywordsTacrolimus Stem Cell Transplant Conditioning Regimen Donor Chimerism Mixed Chimerism
Compliance with Ethical Standards
Conflict of Interests
The authors declare that they have no conflict of interests.
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