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- W2074080553 abstract "The hyper‑IgM syndromes (HIGMs) are a group of primary immune deficiency diseases characterized by a normal or elevated serum level of IgM and low or absent serum levels of IgG, IgA and IgE. Here, we report a case of X‑linked HIGM with a new CD40L gene mutation presenting with eosinophilia. The patient experienced recurrent pneumonia and acute respiratory distress syndrome (ARDS) from 4 months of age. Immunological evaluation revealed a normal level of serum IgM, with significantly low levels of serum IgG and IgA. Genetic analysis of the CD40L gene revealed a splice mutation in exon 5 at the nucleotide position 410 (c.410‑2A>G), which has never been reported previously in the literature. Following treatment with regular intravenous immunoglobulin (IVIG) replacement therapy every 3 to 4 weeks and infection prophylaxis with trimethoprim‑sulfamethoxazole during follow‑up, the patient's immunoglobulin level returned to normal with no pulmonary infection. The eosinophil count also returned to normal after a small dose of steroid agent treatment was administered orally for 5 months. In summary, X‑linked hyper‑IgM syndrome with CD40L gene mutation presenting with eosinophilia may be successfully treated using IVIG replacement therapy and a small dose of steroid agent." @default.
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- W2074080553 date "2015-02-05" @default.
- W2074080553 modified "2023-10-18" @default.
- W2074080553 title "X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report" @default.
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- W2074080553 doi "https://doi.org/10.3892/etm.2015.2261" @default.
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