Avicenna J Med Biotech arij002 Avicenna Journal of Medical Biotechnology 2008-2835 2008-4625 Avicenna Research Institute ajmb10346 <i>TNFRSF13B/TACI</i> Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency KaracaNeslihanSevercanEzgiGuvenBurcuAzarsizElifAksuGuzideKutukculerNecil 10 3 192 195 8 7 2017 13 11 2017

<p>Background: The Transmembrane Activator and Calcium modulator ligand Interactor (TACI), encoded by <em>TNFRSF13B/TACI</em> gene, is mutated in some patients with Common Variable Immunodeficiency (CVID) and IgA Deficiency (IgAD). The purpose of the study was to investigate for the first time in Turkish patients the prevalence of <em>TNFRSF13B</em> alterations in CVID, selective and partial IgAD patients.&nbsp;<br /> Methods: Forty two CVID, 36 selective IgAD, 34 partial IgAD and 25 healthy controls were included. All patients were examined for <em>TNFRSF13B</em> gene mutations by PCR.&nbsp;<br /> Results: The percentages of <em>TNFRSF13B</em> mutations in CVID, selective and partial IgAD patients were 7.1, 2.7 and 2.9%, respectively. No disease causing <em>TNFRSF13B</em> mutation in healthy controls was found. Patients with TACI mutations had recurrent respiratory tract infections. None of them experienced autoimmunity, bronchiectasis or granulomatous disease. In conclusion, <em>TNFRSF13B </em>mutations were present not only in CVID patients, but also in IgAD cases.<br /> Conclusion: Modifier genes as well as their combination with other genetic or environmental factors may play an important role in the development of the immunodeficiency phenotype.</p>