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Article Abstract
We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8176654 | PMC |
| http://dx.doi.org/10.1016/j.jaci.2020.06.007 | DOI Listing |
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National Jewish Health, Immunodeficiency Diagnosis and Treatment Program, Department of Pediatrics, Denver, Colo.
We identified in an adult with ectodermal dysplasia and immunodeficiency a germline, gain-of-function mutation, K171R, in IKBKB. The K171R mouse immunologic phenotype parallels human, suggesting IKBKB K171R underlies a novel immunodeficiency syndrome.
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