X-linked hyper-IgM syndrome with eosinophilia in a male child: A case report

Experimental and Therapeutic Medicine
L I GuoZhenjie Chen

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 ...Continue Reading

References

Dec 10, 2003·Medicine·Jerry A WinkelsteinMary Ellen Conley
Feb 5, 2008·Journal of Clinical Immunology·Adriana A JesusJoão B Oliveira
Feb 26, 2010·British Journal of Haematology·E Graham Davies, Adrian J Thrasher
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Citations

May 26, 2016·Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology·Behdad Navabi, Julia Elizabeth Mainwaring Upton
Sep 11, 2016·Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology·Ashmi DoshiStephanie Leonard
Jan 19, 2018·Proceedings. Biological Sciences·Laurel E K SerieysChristel H Uittenbogaart

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