Two novel CD40LG gene mutations causing X-linked hyper IgM syndrome in Vietnamese patients

• Published in: Clinical and experimental medicine Vol. 23; no. 1; pp. 157 - 161
• Main Authors: Lien, Nguyen Thi Kim, Van Anh, Nguyen Thi, Chi, Le Quynh, Le, Nguyen Ngoc Quynh, Huyen, Thuc Thanh, Mai, Nguyen Thi Phuong, Van Tung, Nguyen, Hoang, Nguyen Huy
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01-02-2023; Springer Nature B.V
• Subjects: CD40 Ligand - genetics; Child; Diarrhea; Etiology; Genetic analysis; Hematology; Hematopoietic stem cells; Humans; Hyper-IgM Immunodeficiency Syndrome, Type 1 - diagnosis; Hyper-IgM Immunodeficiency Syndrome, Type 1 - genetics; Hyper-IgM Immunodeficiency Syndrome, Type 1 - therapy; Immunodeficiency; Immunoglobulin A; Immunoglobulin G; Immunoglobulin M; Internal Medicine; Medicine; Medicine & Public Health; Mutation; Oncology; Patients; Pediatrics; Primary immunodeficiencies; Rheumatology; Short Communication; Southeast Asian People; Stem cell transplantation; Vietnam; Vietnam; Vietnamese patients; Mutation; gene; Whole exome sequencing; Hyper IgM; Primary immunodeficiency; CD40LG gene
• ISSN: 1591-8890; 1591-9528
• DOI: 10.1007/s10238-021-00774-0

The X-linked hyper IgM syndrome is a primary immunodeficiency disorder (PID) due to mutations in the
CD40LG
gene. Hyper IgM syndrome is characterized by the absence or decreased levels of IgG and IgA and normal or elevated IgM levels in serum. Affected patients become susceptible to infections such as pneumonia, diarrhea, and skin ulcer types. Hematopoietic stem cell transplantation is the only treatment currently available and ideally performed before the age of 10 years. Early, accurate diagnosis will contribute to the effective treatment for patients with hyper IgM. The patients from different Vietnamese families who have been diagnosed with hyper IgM at The Allergy, Immunology and Rheumatology Department, Vietnam National Hospital Pediatrics, were performed a genetic analysis using whole exome sequencing. The mutations were confirmed by the Sanger sequencing method in patients and their families. The influence of the mutations was predicted with the in silico analysis tools: PROVEAN, SIFT, PolyPhen-2, and MutationTaster. In this study, two novel mutations (p.Thr254fs and p.Leu138Phe) in the
CD40LG
gene were found in Vietnamese patients with X-linked hyper IgM syndrome. Our results contribute to the general understanding of the etiology of the disease and can help diagnose the different forms of PID.