X-linked hyper-immunoglobulin M syndrome harboring a novel CD40-ligand gene mutation: a case report
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The X-linked hyper-IgM syndrome (X-HIGM1) is a rare primary immunodeficiency disorder (PID) caused by mutations in the gene encoding the CD154 protein, also known as CD40 ligand (CD40LG). X-HIGM1 is characterized by normal or elevated serum levels of IgM in as... ...
