Table S2.
Phenotype | E391X | F312L |
Immunodeficiency | Sepsis, encapsulated bacteria | Atypical mycobacteria, peritoneal abscess |
Inflammatory disease | colitis, dermatitis | Occasional fevers |
Ectodermal dysplasia | Present | Mild |
Phenotype | E391X | F312L |
Immunodeficiency | Sepsis, encapsulated bacteria | Atypical mycobacteria, peritoneal abscess |
Inflammatory disease | colitis, dermatitis | Occasional fevers |
Ectodermal dysplasia | Present | Mild |