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    Dual variants of uncertain significance in a case of hyper-IgM syndrome: implications for diagnosis and management by Nourhen Agrebi, Rafah Mackeh, Mohamed Alsabbagh, Asha Elmi, Amnah A. Al-Marri, Satanay Z. Hubrack, Saleema C. Purayil, Mohammed Yousuf Karim, Mohammed Yousuf Karim, Amel Hassan, Amel Hassan, Bernice Lo, Bernice Lo

    Published 2025-06-01
    “…The overlapping clinical presentations of different gene mutations complicate diagnosis and management.ObjectiveThis study aims to elucidate the clinical implications of concurrent AICDA and IKBKB homozygous variants in a pediatric patient diagnosed with hyper-IgM syndrome.MethodsWe present immunological and genetic analysis of a Tunisian patient with two homozygous variants of uncertain significance (VUSs) in the IKBKB and AICDA genes, suspected of causing hyper-IgM and immune deficiency. …”
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