The Coexistence of Asthma and Common Variable Immunodeficiency in a Patient with TNFRSF13B Gene Mutation
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Abstract
Common variable immunodeficiency disorder (CVID) is the most prevalent primary immunodeficiency in adults. Pathogenic mutations of the TNFRSF13B gene were identified in CVID patients and associated with autoimmunity and lymphoproliferation. A study on Swedish children unaffected by CVID has shown that rare variants in the TNFRSF13B gene increase the risk of asthma. To the best of our knowledge, asthma has not been reported in CVID patients with TNFRSF13B gene mutations. We described a patient suffering from asthma and CVID with a heterozygous mutation in the TNFRSF13B gene. According to our findings and previous studies, mutations in the TNFRSF13B gene seem to be possibly associated with the occurrence of asthma in CVID patients.
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2. Janssen L, Van Der Flier M, De Vries E. Lessons Learned From the Clinical Presentation of Common Variable Immunodeficiency Disorders: A Systematic Review and Meta-Analysis. Front Immunol. 2021;12:620709.
3. Romberg N, Le Coz C. Common variable immunodeficiency, cross currents, and prevailing winds. Immunol Rev. 2024;322(1):233–43.
4. Ameratunga R, Lehnert K, Woon S. All Patients With Common Variable Immunodeficiency Disorders (CVID) Should Be Routinely Offered Diagnostic Genetic Testing. Front Immunol. 2019;10:2678.
5. Bisgin A, Sonmezler O, Boga I, Yilmaz M. The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID). Sci Rep. 2021;11(1):8308.
6. Chinn I, Orange J. A 2020 update on the use of genetic testing for patients with primary immunodeficiency. Expert Rev Clin Immunol. 2020 Sep 1;16(9):897–909.
7. Li R, Zheng Y, Li Y, Zhang R, Wang F, Yang D, et al. Common Variable Immunodeficiency with Genetic Defects Identified by Whole Exome Sequencing. Biomed Res Int. 2018;2018(1):3724630.
8. Salzer U, Grimbacher B. TACI deficiency — a complex system out of balance. Curr Opin Immunol. 2021;71:81–8.
9. Lee JJ, Jabara HH, Garibyan L, Rauter I, Sannikova T, Dillon SR, et al. The C104R mutant impairs the function of transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI) through haploinsufficiency. J Allergy Clin Immunol. 2010;126(6):1234-1241.e2.
10. Pashangzadeh S, Delavari S, Moeini Shad T, Salami F, Rasouli SE, Yazdani R, et al. Noninfectious Complications in B-Lymphopenic Common Variable Immunodeficiency. J Investig Allergol Clin Immunol. 2024;34(4):233–45.
11. Fırtına S, Kutlu A, Işıkgil B, Yozlu M, Çepeci BN, Yılmaz H, et al. Tnfrsf13b Variants Act As Modifiers To Clinical Phenotypes In Common Variable Immune Deficiency Disorders. Sağlık Bilimlerinde İleri Araştırmalar Dergisi. 2023;6(3):210–8.
12. Dupin C, Marchand-Adam S, Favelle O, Costes R, Gatault P, Diot P, et al. Asthma and Hypogammaglobulinemia: an Asthma Phenotype with Low Type 2 Inflammation. J Clin Immunol. 2016;36(8):810–7.
13. Ibrahim H, Walsh J, Casey D, Murphy J, Plant BJ, O’Leary P, et al. Recurrent asthma exacerbations: co-existing asthma and common variable immunodeficiency. J Asthma. 2022;59(6):1177–80.
14. Rubin L, Shamriz O, Toker O, Kadish E, Ribak Y, Talmon A, et al. Allergic-like disorders and asthma in patients with common variable immunodeficiency: a multi-center experience. J Asthma. 2022;59(3):476–83.
15. Yazdani R, Heydari A, Azizi G, Abolhassani H, Aghamohammadi A. Asthma and Allergic Diseases in a Selected Group of Patients With Common Variable Immunodeficiency. J Investig Allergol Clin Immunol. 2016;26(3):209–11.
16. Ylldlz E, Çölkesen F, Arslan S, Evcen R, Sadi Aykan F, Klllnç M. Allergic Diseases as a Clinical Phenotype Marker in Patients with Common Variable Immunodeficiency. Int Arch Allergy Immunol. 2023;184(10):1047–55.
17. Janzi M, Melén E, Kull I, Wickman M, Hammarström L. Rare mutations in TNFRSF13B increase the risk of asthma symptoms in Swedish children. Genes Immun. 2012;13(1):59–65.
18. Cascalho M, Platt JL. TNFRSF13B Diversification Fueled by B Cell Responses to Environmental Challenges—A Hypothesis. Front Immunol. 2021;12:634544.
19. Matson EM, Abyazi ML, Bell KA, Hayes KM, Maglione PJ. B Cell Dysregulation in Common Variable Immunodeficiency Interstitial Lung Disease. Front Immunol. 2021;11:622114.
20. Matsuyama T, Salter BM, Emami Fard N, Machida K, Sehmi R. TNF Superfamily and ILC2 Activation in Asthma. Biomolecules. 2024;14(3):294.
21. De Mattos Barbosa MG, Lefferts AR, Huynh D, Liu H, Zhang Y, Fu B, et al. TNFRSF13B genotypes control immune-mediated pathology by regulating the functions of innate B cells. JCI Insight. 2021;6(17):e150438.
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| Issue | Articles in Press | |
| Section | Case Report(s) | |
| Keywords | ||
| Asthma Common variable immunodeficiency TACI (TNFRSF13B) | ||
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How to Cite
1.
Ranjbarnejad T, Salehi M, Abolhassani H, Sherkat R, Sharifi M. The Coexistence of Asthma and Common Variable Immunodeficiency in a Patient with TNFRSF13B Gene Mutation. Iran J Allergy Asthma Immunol. 2025;:1-5.
