Immunophenotype, Clinical Effect, and Comparison of TNFRSF13B/TACI Mutations: A Single-Center Retrospective Cohort Study of 34 Patients

Abstract

Objective: In this study, the clinical and laboratory findings, complications, and responses to regular intravenous immunoglobulin (IVIG) treatment of 34 common variable immunodeficiency (CVID) patients with transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) mutation were evaluated retrospectively. Materials and Methods: The clinical characteristics, immunological and laboratory findings of patients whose TACI mutation was detected by the next generation sequencing method and who were followed in our clinic with the diagnosis of CVID were examined. Results: Of the patients, 20 (59%) were male and 14 (41%) were female. Eighteen patients were children (<18 years old) who had a median age of genetic diagnosis of 6.2 years and 16 were adults (>18 years) with a median age of genetic diagnosis of 34 years. The most common complaint was recurrent respiratory tract infection (68%). In 20 of the patients, lymphoproliferation and related lymphoproliferation, growth retardation, lymphoma, immune thrombocytopenic purpura, Hashimoto's thyroiditis, Crohn's disease, autoimmune neutropenia, Celiac disease, bronchiectasis, type 1 Diabetes, and asthma were observed. A statistically significant difference was detected between the lymphocyte values of pediatric and adult patients who had comorbidity and those that were not detected. According to the European Society of Immunodeficiencies/the Pan-American Immunodeficiency Group (ESID/PAGID), 16 patients who met the diagnostic criteria had significantly lower lymphocyte, immunoglobulin (Ig) A, IgG, naive (CD19(+)IgD(+)CD27(-)), non-switched cell (CD19(+)IgD(-)CD27(+)) percentage than 18 patients who did not match. Of 34 patients, a total of 24, 13 of whom were children and 11 of whom were adults, received regular IVIG treatment because they met the criteria for ESID/PAGID and/or had comorbidities. Conclusion: In our study, the fact that bronchiectasis and recurrent pneumonia and the need for hospitalized treatment were less common than in the literature was thought to be related to early IVIG treatment.