A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome
H Ohnishi, R Miyata, T Suzuki, T Nose… - Journal of allergy and …, 2012 - jacionline.org
This is the first report of an AD-EDA-ID patient with a novel Q9X mutation of the IKBA gene.
This case also demonstrates that the screening method using LPS-stimulated intracellular
TNF-a–producing CD14 cells is an effective method for the rapid diagnosis of innate
immune defects, not only in IRAK4-deficient patients but also in EDA-ID patients.
This case also demonstrates that the screening method using LPS-stimulated intracellular
TNF-a–producing CD14 cells is an effective method for the rapid diagnosis of innate
immune defects, not only in IRAK4-deficient patients but also in EDA-ID patients.