AI Article Synopsis
- Hyper IgM Syndrome (HIGM) is a rare immunodeficiency leading to recurrent infections due to issues with class switching and somatic hyper-mutation in the immune system.
- This study examined six male Iranian patients suspected of HIGM based on clinical signs and measured immune levels, conducting genetic tests to identify mutations.
- Findings revealed six unique mutations associated with HIGM, primarily in the CD40L and AID genes, which can aid in genetic counseling and prenatal diagnostics for affected families.
Article Abstract
Background: Hyper IgM Syndrome (HIGM) is a rare primary immunodeficiency in which impairment of class switching recombination (CSR) and somatic hyper-mutation (SHM) leads to recurrent infections.
Objectives: The aim of this study is to report the clinical and genetic features of six Iranian HIGM patients.
Methods: Six patients, who suspected to have HIGM based on two clinical findings, including recurrent infections and low levels of IgG and IgA and normal or elevated levels of IgM, were entered this study to undergo genetic studies. Sanger sequencing was applied to detect pathogenic mutations in CD40L and AID genes causing two most common forms of HIGM, which known as HIGM type 1 and 2, respectively.
Results: All patients who entered the study were males from unrelated families with a median age of 3.8 years. The most frequent clinical manifestation was recurrent pneumonia. Genetic studies of the patients revealed six different mutations, including five mutations in CD40L besides one mutation in AID. Two mutations in CD40L (p.F31fsX5 and p.C84S) were novel and three mutations (p. G219R, p.D62fsX18, and p.Q186X) have been previously reported. The mutation found in AID (p.E122X) was also previously described.
Conclusion: The study results may provide valuable information for prenatal diagnosis and also for genetic counseling especially for those who have a history of primary immunodeficiency in their family.
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| http://dx.doi.org/10.1080/08820139.2018.1493052 | DOI Listing |
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