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. 2016 Jan 22;113(6):1612–1617. doi: 10.1073/pnas.1518163113

Table S2.

Summary of clinical phenotypes in patients with NEMO-UBAN domain missense mutation and NEMO C-terminus truncation mutation

Phenotype E391X F312L
Immunodeficiency Sepsis, encapsulated bacteria Atypical mycobacteria, peritoneal abscess
Inflammatory disease colitis, dermatitis Occasional fevers
Ectodermal dysplasia Present Mild