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TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency

BACKGROUND: The Transmembrane Activator and Calcium modulator ligand Interactor (TACI), encoded by TNFRSF13B/TACI 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 patien...

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Autores principales: Karaca, Neslihan Edeer, Severcan, Ezgi Ulusoy, Guven, Burcu, Azarsiz, Elif, Aksu, Guzide, Kutukculer, Necil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Avicenna Research Institute 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064010/
https://www.ncbi.nlm.nih.gov/pubmed/30090215
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author Karaca, Neslihan Edeer
Severcan, Ezgi Ulusoy
Guven, Burcu
Azarsiz, Elif
Aksu, Guzide
Kutukculer, Necil
author_facet Karaca, Neslihan Edeer
Severcan, Ezgi Ulusoy
Guven, Burcu
Azarsiz, Elif
Aksu, Guzide
Kutukculer, Necil
author_sort Karaca, Neslihan Edeer
collection PubMed
description BACKGROUND: The Transmembrane Activator and Calcium modulator ligand Interactor (TACI), encoded by TNFRSF13B/TACI 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 TNFRSF13B alterations in CVID, selective and partial IgAD patients. METHODS: Forty two CVID, 36 selective IgAD, 34 partial IgAD and 25 healthy controls were included. All patients were examined for TNFRSF13B gene mutations by PCR. RESULTS: The percentages of TNFRSF13B mutations in CVID, selective and partial IgAD patients were 7.1, 2.7 and 2.9%, respectively. No disease causing TNFRSF13B 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, TNFRSF13B mutations were present not only in CVID patients, but also in IgAD cases. 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.
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spelling pubmed-60640102018-08-08 TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency Karaca, Neslihan Edeer Severcan, Ezgi Ulusoy Guven, Burcu Azarsiz, Elif Aksu, Guzide Kutukculer, Necil Avicenna J Med Biotechnol Short Communication BACKGROUND: The Transmembrane Activator and Calcium modulator ligand Interactor (TACI), encoded by TNFRSF13B/TACI 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 TNFRSF13B alterations in CVID, selective and partial IgAD patients. METHODS: Forty two CVID, 36 selective IgAD, 34 partial IgAD and 25 healthy controls were included. All patients were examined for TNFRSF13B gene mutations by PCR. RESULTS: The percentages of TNFRSF13B mutations in CVID, selective and partial IgAD patients were 7.1, 2.7 and 2.9%, respectively. No disease causing TNFRSF13B 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, TNFRSF13B mutations were present not only in CVID patients, but also in IgAD cases. 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. Avicenna Research Institute 2018 /pmc/articles/PMC6064010/ /pubmed/30090215 Text en Copyright© 2018 Avicenna Research Institute http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Short Communication
Karaca, Neslihan Edeer
Severcan, Ezgi Ulusoy
Guven, Burcu
Azarsiz, Elif
Aksu, Guzide
Kutukculer, Necil
TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency
title TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency
title_full TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency
title_fullStr TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency
title_full_unstemmed TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency
title_short TNFRSF13B/TACI Alterations in Turkish Patients with Common Variable Immunodeficiency and IgA Deficiency
title_sort tnfrsf13b/taci alterations in turkish patients with common variable immunodeficiency and iga deficiency
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6064010/
https://www.ncbi.nlm.nih.gov/pubmed/30090215
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