Heterozygous Alterations of TNFRSF13BTACI in Tonsillar Hypertrophy and Sarcoidosis
Joint Authors
Salzer, Ulrich
Daniil, Zoe
Germenis, Anastasios E.
Skoulakis, Charalampos
Gourgoulianis, K. I.
Florou, Zoe
Speletas, Matthaios
Bardaka, Fotini
Petinaki, Efthimia
Source
Clinical and Developmental Immunology
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-07-15
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
TNFRSF13B/TACI defects have been associated with CVID pathogenesis and/or phenotype, especially the development of benign lymphoproliferation and autoimmunity.
Our purpose was to investigate the role of TNFRSF13B/TACI defects in the pathogenesis of two common lymphoproliferative disorders, namely, sarcoidosis and tonsillar hypertrophy (TH).
105 patients (71 with sarcoidosis and 34 with TH, including 19 without infectious causative and 15 due to Haemophilus influenzae) were analyzed for TNFRSF13B/TACI defects.
Two out of 19 TH patients without infectious cause (10.5%) and 2 patients with sarcoidosis (2.8%) displayed rare TNFRSF13B/TACI defects (I87N, L69TfsX12, E36L, and R202H, resp.).
Both mutations identified in TH patients have been assessed as deleterious for protein function, while the patient with the R202H mutation and sarcoidosis exhibited also sIgG4D.
Our study further supports the notion that TNFRSF13B/TACI defects alone do not result in CVID but may be also found frequently in distinct clinical phenotypes, including benign lymphoproliferation and IgG subclass deficiencies.
American Psychological Association (APA)
Speletas, Matthaios& Salzer, Ulrich& Florou, Zoe& Petinaki, Efthimia& Daniil, Zoe& Bardaka, Fotini…[et al.]. 2013. Heterozygous Alterations of TNFRSF13BTACI in Tonsillar Hypertrophy and Sarcoidosis. Clinical and Developmental Immunology،Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-479261
Modern Language Association (MLA)
Speletas, Matthaios…[et al.]. Heterozygous Alterations of TNFRSF13BTACI in Tonsillar Hypertrophy and Sarcoidosis. Clinical and Developmental Immunology No. 2013 (2013), pp.1-5.
https://search.emarefa.net/detail/BIM-479261
American Medical Association (AMA)
Speletas, Matthaios& Salzer, Ulrich& Florou, Zoe& Petinaki, Efthimia& Daniil, Zoe& Bardaka, Fotini…[et al.]. Heterozygous Alterations of TNFRSF13BTACI in Tonsillar Hypertrophy and Sarcoidosis. Clinical and Developmental Immunology. 2013. Vol. 2013, no. 2013, pp.1-5.
https://search.emarefa.net/detail/BIM-479261
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-479261