The Coexistence of Asthma and Common Variable Immunodeficiency  in a Patient with TNFRSF13B Gene Mutation

Tayebeh  Ranjbarnejad; Mansoor  Salehi; Hassan  Abolhassani; Roya  Sherkat; Mohammadreza  Sharifi

doi:10.18502/ijaai.v25i2.20804

Tayebeh Ranjbarnejad Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
Mansoor Salehi Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
Hassan Abolhassani Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden
Roya Sherkat Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
Mohammadreza Sharifi Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

DOI: https://doi.org/10.18502/ijaai.v25i2.20804

Keywords: Asthma; Common variable immunodeficiency; TACI (TNFRSF13B)

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.