Literature DB >> 29308286

Familial sarcoidosis: Report of a mother and her son.

Ekin Akyıldız1, Şenol Kobak2.   

Abstract

Sarcoidosis is a chronic, multisystemic inflammatory disease, characterized with noncaseating granulomas. The pathogenesis of the disease is not yet clear, however, the main hypothesis is impaired and inadequate immune response developing against different environmental triggers in genetically predisposed people. The role of genetic factors in the development of sarcoidosis is well known. Over many years, familial sarcoidosis cases have been reported in various studies. In this report, we present familial sarcoidosis cases in a mother and her son.

Entities:  

Keywords:  Sarcoidosis; familial; presentation

Year:  2017        PMID: 29308286      PMCID: PMC5741344          DOI: 10.5152/eurjrheum.2017.17029

Source DB:  PubMed          Journal:  Eur J Rheumatol        ISSN: 2147-9720


  29 in total

1.  Description of sarcoidosis: Report of the Subcommittee on Classification and Definition.

Authors:  D G James; J Turiaf; Y Hosoda; W J Williams; H L Israel; A C Douglas; L E Siltzbach
Journal:  Ann N Y Acad Sci       Date:  1976       Impact factor: 5.691

2.  Severe pulmonary sarcoidosis is strongly associated with the haplotype HLA-DQB1*0602-DRB1*150101.

Authors:  Christina E M Voorter; Marjolein Drent; Ella M van den Berg-Loonen
Journal:  Hum Immunol       Date:  2005-07       Impact factor: 2.850

3.  Prevalence and significance of MEFV gene mutations in patients with sarcoidosis.

Authors:  F Sever; S Kobak; Ö Goksel; T Goksel; M Orman; A Berdeli
Journal:  Scand J Rheumatol       Date:  2015-11-17       Impact factor: 3.641

4.  Familial sarcoidosis terminating as neurosarcoidosis.

Authors:  R Salm
Journal:  Postgrad Med J       Date:  1969-10       Impact factor: 2.401

5.  Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

Authors:  Ruta Valentonyte; Jochen Hampe; Klaus Huse; Philip Rosenstiel; Mario Albrecht; Annette Stenzel; Marion Nagy; Karoline I Gaede; Andre Franke; Robert Haesler; Andreas Koch; Thomas Lengauer; Dirk Seegert; Norbert Reiling; Stefan Ehlers; Eberhard Schwinger; Matthias Platzer; Michael Krawczak; Joachim Müller-Quernheim; Manfred Schürmann; Stefan Schreiber
Journal:  Nat Genet       Date:  2005-02-27       Impact factor: 38.330

6.  Human leukocyte antigen genes may outweigh racial background when generating a specific immune response in sarcoidosis.

Authors:  J Grunewald; A Eklund
Journal:  Eur Respir J       Date:  2001-05       Impact factor: 16.671

7.  Results from a genome-wide search for predisposing genes in sarcoidosis.

Authors:  M Schürmann; P Reichel; B Müller-Myhsok; M Schlaak; J Müller-Quernheim; E Schwinger
Journal:  Am J Respir Crit Care Med       Date:  2001-09-01       Impact factor: 21.405

8.  Sarcoidosis and granuloma genes: a family-based study in African-Americans.

Authors:  B A Rybicki; M J Maliarik; L M Poisson; M C Iannuzzi
Journal:  Eur Respir J       Date:  2004-08       Impact factor: 16.671

9.  Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis.

Authors:  P Spagnolo; H Sato; J C Grutters; E A Renzoni; S E Marshall; H J T Ruven; A U Wells; A Tzouvelekis; C H M van Moorsel; J M M van den Bosch; R M du Bois; K I Welsh
Journal:  Tissue Antigens       Date:  2007-09

10.  Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.

Authors:  Sylvia Hofmann; Andre Franke; Annegret Fischer; Gunnar Jacobs; Michael Nothnagel; Karoline I Gaede; Manfred Schürmann; Joachim Müller-Quernheim; Michael Krawczak; Philip Rosenstiel; Stefan Schreiber
Journal:  Nat Genet       Date:  2008-09       Impact factor: 38.330

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