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Case report of X-linked hyper-IgM syndrome with acquired toxoplasmic encephalitis

Author(s): Guoyan Lu, Dan Yu

The X-linked hyper-IgM (XHIGM; HIGM1) syndrome is an uncommon primary immunodeficiency disease caused by mutations in the gene for CD40 ligand and characterized by normal or elevated serum IgM, low or absent serum levels of IgG, IgA and IgE, and defective T-cell function. Here we reported a case of XHIGM with acquired toxoplasmic encephalitis. The patient experienced recurrent serious bacterial infection and recurrent neutropenia from infant. He suffered from lethargy, somnolence, and ataxia. Brain imaging demonstrated typical multiple ring-enhancing lesions which has never been reported previously in the literature. Toxoplasma IgM was positive. Immunological evaluation revealed low IgG level and high IgM level. Sequencing analysis of the CD40L gene revealed a splice mutation within exon 5 at nucleotide position 654 (c.654C>A). Patient’s mother was a carrier. Following treatment with intravenous immunoglobulin(IVIG), azithromycin, trimethoprim-sulfamethoxazole, granulocyte colony stimulating factor (G-CSF) and sulfadiazine, they gave up treatment at the beginning of his Toxoplasma treatment. The patient died 3 months later. In summary, an early diagnosis is very important