Novel variants related to extreme elevation of serum IgE in Vietnamese patients with primary immunodeficiency: Case report.
| Title: | Novel variants related to extreme elevation of serum IgE in Vietnamese patients with primary immunodeficiency: Case report. |
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| Authors: | Huong LTM; Vietnam National Hospital of Pediatrics, Ministry of Health, Hanoi, Vietnam.; Lien NTK; Institute of Biology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Van Anh NT; Vietnam National Hospital of Pediatrics, Ministry of Health, Hanoi, Vietnam.; Dien TM; Vietnam National Hospital of Pediatrics, Ministry of Health, Hanoi, Vietnam.; Mai NTP; Vietnam National Hospital of Pediatrics, Ministry of Health, Hanoi, Vietnam.; Ngoc ND; Vietnam National Hospital of Pediatrics, Ministry of Health, Hanoi, Vietnam.; Thu NM; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Phenikaa University Hospital, Ministry of Health, Vietnam.; Ngan NTT; Institute of Biology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Hien NT; Institute of Biology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Van Tung N; Institute of Biology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Hoang NH; Institute of Biology, Vietnam Academy of Science and Technology, Hanoi, Vietnam.; Graduate University of Science and Technology, Vietnam Academy of Science and Technology, Hanoi, Vietnam. |
| Source: | Medicine [Medicine (Baltimore)] 2025 Nov 07; Vol. 104 (45), pp. e45565. |
| Publication Type: | Journal Article; Case Reports |
| Language: | English |
| Journal Info: | Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Hagerstown, Md : Lippincott Williams & Wilkins |
| MeSH Terms: | Immunoglobulin E*/blood ; Primary Immunodeficiency Diseases*/genetics ; Primary Immunodeficiency Diseases*/blood; Adaptor Proteins, Signal Transducing/genetics ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Exome Sequencing ; Southeast Asian People ; Vietnam |
| Abstract: | Rationale: Extreme elevation of serum immunoglobulin E (IgE) concentration is a key marker for detecting immune disorders, including humoral and cellular defects in primary immunodeficiency (PID). IgE antibodies are present in low concentrations in the body and are produced in large amounts when exposed to infections or toxins. However, IgE is also the cause of allergic symptoms and life-threatening anaphylaxis reactions. Early diagnosis of PID associated with elevated IgE may lead to effective or life-saving therapeutic interventions. Therefore, genomic testing-based diagnosis is becoming a widely used diagnostic tool to determine the cause of disease.; Patient Concerns: Three Vietnamese patients with increased IgE expression were collected for genetic analysis at The Allergy, Immunology, and Rheumatology Department, Vietnam National Hospital Pediatrics.; Diagnoses: Primary immunodeficiency associated with elevated IgE.; Interventions: We performed whole-exome sequencing (WES) to detect novel associated variants and confirmed these by Sanger sequencing. The effects of the variants were predicted using in silico prediction tools.; Outcomes: Three novel pathogenic variants including c.2204A > T, p.Asp735Val in the PTPRC gene, c.586T > A, p.Phe196Ile in the UNC119 gene, and c.481C > T, p.Arg161Cys in the IL21R gene were found to be associated with increased IgE.; Lessons: We report novel variants associated with genetic defects that increase IgE found in PID patients. These results emphasize the need for accurate diagnosis and appropriate intervention to improve outcomes and quality of care for individuals with high IgE levels and related immune disorders.; (Copyright © 2025 the Author(s). Published by Wolters Kluwer Health, Inc.) |
| Competing Interests: | All authors have no conflicts of interest to disclose. |
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| Contributed Indexing: | Keywords: Vietnamese patients; hyper-IgE; novel variants; primary immunodeficiency (PID); whole-exome sequencing (WES) |
| Substance Nomenclature: | 0 (Adaptor Proteins, Signal Transducing); 37341-29-0 (Immunoglobulin E) |
| Entry Date(s): | Date Created: 20251108 Date Completed: 20251108 Latest Revision: 20251113 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC12599704 |
| DOI: | 10.1097/MD.0000000000045565 |
| PMID: | 41204599 |
| Database: | MEDLINE |
Journal Article; Case Reports