Severe Form of Keratitis–Ichthyosis–Deafness (KID) Syndrome Associated with Septic Complications

    June 2010 in “ The Journal of Dermatology
    Kunitaka HARUNA, Yasushi Suga, Ami Oizumi, Yuki Mizuno, Hideharu Endo, Toshiaki Shimizu, Toshio Hasegawa, Shigaku Ikeda
    Studysummary This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →