Abstract:

Objective: To explore the clinical feature and immunophenotype of primary immunodeficiency disease caused by MSN gene mutation.Methods: Clinical data, immunophenotype and treatment in 1 case of primary immunodeficiency disease caused by MSN gene mutation were retrospectively analyzed, and related literatures were reviewed. Results: An 8-years-old boy presenting with repeated pulmonary, intestinal infection and recurrent eczema and tinea pedis, was admitted to hospital. Laboratory examination showed that neutrophils, lymphocytes and monocytes were decreased; Immunoglobulin IgG, IgA and IgM were low; T, B and NK lymphocyte counting decreased; the proportion of CD4+/CD8+ was reversed and the percentage of DNT cells increased. Whole exome sequencing (WES) was performed and showed a hemi zygote mutation of MSN gene on the X chromosome (c.511C > T, p.R171W) and was confirmed by Sanger sequencing. The test gene of his parents was normal. The retrieval of "Moesin(MSN) mutation or deficiency" was made in PubMed, web of science, Chinese CNKI, VIP database and wanfang database. From the establishments of these databases to June 30th, 2017, a total of 2 articles were retrieved. Including 1 case of this article, a total of 6 children with MSN mutation were analyzed. All of them showed repeated infection in the early stage of life, involving respiratory tract, digestive tract and skin, and susceptible to bacteria, fungi and viruses. The varicella zoster virus infection was especially prominent and was prone to involve multiple systems. The immunophenotype was similar to that of the case in this article. CD8+T cells overexpressed the senescent marker CD57. The use of immunoglobulin replacement and prophylactic antibiotics was an effective treatment to reduce the incidence of infection.Conclusion: The immunodeficiency disease caused by MSN gene mutation is characterized by repeated infection in the early stage of life, decrease of leukocytes and immunoglobulin.