Pseudallescheria Boydii Infection Associated With IgG4-Related Disease

    September 2022 in “ European Journal of Dermatology ”
    Shizuka Ogawa, Takuya Inoue, Kazunari Sugita
    Studysummary This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.
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    This study focused on a family with Junctional epidermolysis bullosa (JEB), a rare genetic disorder, to confirm their diagnosis and identify the pathogenic variant. Researchers collected clinical data and DNA from family members, utilizing whole-exome sequencing and Sanger sequencing to detect gene variants. They discovered a novel splice-site variant (c.629-12T>G) in the LAMB3 gene present in all patients, confirming it as a pathogenic variant. The study concluded that diagnosing JEB should rely on gene sequencing, as splice site variants can also lead to the disease.
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