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Deficiency of the interleukin-1 receptor antagonist (DIRA)(OMIM 612852) is a recently described rare autoinflammatory and autosomal recessive disease, caused by loss of function mutations in interleukin-1-receptor antagonist gene (IL1RN) leading to the unopposed activation of the IL-1 pathway. The human IL1RN gene is localized to the long arm of chromosome 2 at band 2q13 (OMIM 147679). Until now, only thirteen cases resembling this have beeen reported in the world. In this study, we described clinical and molecular date male child who had clinical signs of DIRA syndrome firstly analysed in Turkey.

MASIF (Medication Adherence Scale in FMF) is an instrument designed to measure adherence to treatment in children with Familial Mediterranean Fever (FMF). We have developed this scale for children with FMF and found valid and reliable.

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyper-immunoglobulin D syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations. This autoinflammatory disease is caused by mutations encoding the mevalonate kinase (MVK) gene and is classified in the group of periodic fever syndromes. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS.

The patients characterized with chronic subclinical inflammation even during attack-free periods, are now considered to have an increased risk of atherosclerotic complications as well as other autoinflammatory disease. Damage to the arterial wall due to atherosclerosis causes increased arterial stiffness. Pulse wave velocity (PWV), a noninvasive measure of arterial stiffness, is accepted to be an indicator of subclinical atherosclerosis. Cardiovascular disease included various risk markers; blood biomarkers and genetic markers. Matrix metalloproteinases (MMPs) are closely related proteinases that together are able to degrade all macromolecules of the extracellular matrix. MMPs are potentially implicated in atherogenesis, progression of atherosclerosis. The gene encoding MMP-3 is polymorphic and an insertion (6A)/deletion (5A) polymorphism (5A/6A polymorphism) in the MMP-3 gene may have functional significance in the regulation of its expression. The 5A allele was associated with higher and the 6A allele with lower transcriptional activity. Up to date, the 6A/6A and 5A/6A genotypes were associated with coronary artery disease and carotid atherosclerosis in adults.

Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS),Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding domain, leucine-rich family [NLR], pyrin domain containing, produces cryopyrin protein which participates in inflammasome complexes leading to production of interleukin-1β (IL-1β) and autoinflammation.

Familial Mediterranean fever (FMF) is an autoinflammatory disorder, characterized by periodic fever and serosal inflammation. Colchicine is effective in controlling the attacks and preventing the development of amyloidosis. About 5-10% of the patients do not respond to colchicine.

WOS: 000255911500001, PubMed ID: 17919323, Background: Women with PCOS have been reported to be at increased risk of a number of gynaecological neoplasias, including endometrial, breast, and ovarian cancer. Studies of the possible association of genetic variation in progesterone receptor polymorphism with risk of ovarian and breast cancer have concentrated on a variant known as PROGINS. Methods: Ninety-five young women with PCOS and 99 healthy control women were included in our study. All subjects underwent venous blood drawing for complete hormonal assays, lipid profile, glucose, insulin and PROGINS polymorphism genetic study. Results: In PROGINS polymorphism results; in both control and the patient groups T1/T1 has been detected in high levels. But for genotype (p = 0.178) and allele (p = 0.555) frequencies both of the groups give similar results. Statistically significant difference has been detected on serum FSH levels for T1/T1 genotype according to T2/T2 genotype. Conclusion: No relation has been detected between the inflammatory and oxidative stress factors, and PROGINS polymorphism alleles. This may be because the PCOS patients are young and their BMI means are normal and their CIMT and oxidative stress markers are like healthy women.