NEMO Syndrome (Incontinentia Pigmenti) and Systemic Lupus Erythematosus: A New Disease Association

    January 2012 in “ Lupus ”
    Piccoli Gb, Rossella Attini, F. N. Vigotti, Carla Naretto, Federica Fassio, Olga Randone, Gabriella Restagno, Tullia Todros, D Roccatello
    TLDR NEMO syndrome and systemic lupus erythematosus are linked in a new disease association.
    This document reported the first known association between NEMO syndrome (incontinentia pigmenti) and systemic lupus erythematosus (SLE) in a 35-year-old pregnant patient. The patient, diagnosed with SLE at age 24, exhibited multisystemic symptoms and had a family history of related anomalies. Genetic testing confirmed NEMO syndrome, characterized by developmental anomalies and immunodepression. The findings suggested that the NF-kB essential modulator gene, implicated in immune deficiencies, might play a role in the pathogenesis of SLE, highlighting the complex interplay between congenital and autoimmune diseases.
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