Copy number variation of FCGR genes in etiopathogenesis of sarcoidosis.

We have previously revealed that, in contrast to polymorphism of FCGR2B and FCGR3B, polymorphism of FCGR2A, FCGR2C and FCGR3A genes, encoding receptors for Fc fragment of immunoglobulin G (Fcγ receptors), play a role in increased level of circulating immune complexes with occurrence of Mycobacterium tuberculosis heat shock proteins in patients with sarcoidosis. However, this immunocomplexemia might also be caused by decreased clearance by immune cells due to a changed copy number of FCGR genes. Thus, the next step of our study was to evaluate copy number variation of FCGR2A, FCGR2B, FCGR2C, FCGR3A and FCGR3B in this disease.

Polymorphism of FCGR2A, FCGR2C, and FCGR3B Genes in the Pathogenesis of Sarcoidosis.

We have previously presented evidence that the polymorphism of the FCGR3A gene, encoding the receptor for Fc fragment of immunoglobulin G IIIa (FcγRIIIa) plays a role in the enhancement of circulating immune complexes (CIs) with the occurrence of Mycobacterium tuberculosis heat shock proteins in patients with sarcoidosis (SA). The immunocomplexemia might be caused by decreased affinity of CIs to Fcγ receptors, with the subsequently decreased receptor clearance by immune cells. In the present study we examined whether the polymorphisms of other related genes (FCGR2A, FCGR2C, FCGR3B) encoding other activatory Fcγ receptors, could have a similar effect.

Tracheobronchopathia osteochondroplastica—case report and literature review.

Tracheobronchopathia osteochondroplastica (TBO) is a rare disease of unknown etiology characterised by a formation of multiple, cartilaginous and osteocartilaginous submucosal nodules in the trachea and major bronchi. The course of the disease is usually benign but the narrowing of the respiratory tract can lead to chronic non-specific clinical symptoms. We present a case of a 50-year old man with chronic exertional dyspnoea and stenosis of the trachea visible in imaging tests, in whom the symptoms were caused by TBO.

Risk factors for anaphylaxis in patients with mastocytosis.

Introduction: Symptoms resulting from the activation and release of mediators from the mast cells are observed in about 30% of the patients with mastocytosis.

Objectives: The aim of the study was to assess the prevalence of anaphylactic reactions and to identify the risk factors for anaphylaxis in patients with mastocytosis depending on the type of the disease. Furthermore, we analyzed a response to treatment of mediator-related symptoms in this patient group.