OBJECTIVE To investigate the association of NLRP3, NOD2, MEFV, and PSTPIP1, genes that cause 4 of the autoinflammatory hereditary periodic fever syndromes (HPFS), with juvenile idiopathic arthritis (JIA). METHODS Fifty-one single-nucleotide polymorphisms (SNPs) across the 4 loci were investigated using MassArray genotyping in 950 Caucasian patients with JIA living in the UK and 728 ethnically...

Our understanding of hereditary cancer syndromes in children, adolescents, and young adults continues to grow. In addition, we now recognize the wide variation in tumor spectrum found within each specific cancer predisposition syndrome including the risk for hematologic malignancies. An increased understanding of the genetic mutations, biologic consequences, tumor risk, and clinical management ...

Nucleotide-binding and oligomerization domain NOD-like receptors (NLRs) are highly conserved cytosolic pattern recognition receptors that perform critical functions in surveying the intracellular environment for the presence of infection, noxious substances, and metabolic perturbations. Sensing of these danger signals by NLRs leads to their oligomerization into large macromolecular scaffolds an...

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, hereditary autoinflammatory condition characterized by recurrent inflammatory episodes. We report a 9-year-old boy, diagnosed with HIDS due to two novel mutations, c.62C>T (p.Ala21Val) and c.372-6T>C (probable splicing defect), in the mevalonate kinase (MVK) gene. The pathogenicity of these mutations was confirmed by measuremen...

Familial polyposis syndromes create a group of hereditary syndromes of gastrointestinal tumours. We shall focus on those, touching mostly large bowels and need radical surgery.

AIMS A review of recent knowledge on heredital syndromes related to renal cell carcinoma. METHODS Aim of this review was to summarize the recent knowledge of genetic syndromes associated with renal cell carcinoma. RESULTS Summary of incidence and factors modulating risk of hereditary renal cell carcinoma development. CONCLUSIONS Hereditary forms of RCC are relatively rare. Their study is ...

The article presents a case of periodic fever (PF) in 35-year-old patient, who did not have hereditary and proven genetic factors the disease, which was characterized by an atypical course with variable duration frequency severe abdominal pain febrile attacks, increased acute phase reactants ineffectiveness colchicine intake. Differential diagnosis wide range conditions performed. Daily subcuta...