X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report
- Authors:
- Li Guo
- Bo Chen
- Bin Xu
- Meiping Lu
- Botao Ning
- Zhenjie Chen
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Affiliations: Department of Rheumatology, Immunology and Allergy, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, P.R. China, Department of Children's Rehabilitation, Zhejiang Armed Police Hospital, Hangzhou, Zhejiang 310003, P.R. China, Department of ENT, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, P.R. China, Department of PICU, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, P.R. China
- Published online on: February 5, 2015 https://doi.org/10.3892/etm.2015.2261
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Pages:
1328-1330
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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.
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