Factors that would predict treatment outcome for methotrexate (MTX) would be of great value to clinicians. Recent pharmacogenetic studies have reported associations between single nucleotide polymorphisms (SNP) in MTX transporters and treatment outcome in childhood acute lymphoblastic leukemia and in rheumatoid arthritis.

The conduct of Clinical Research in rare diseases, such as Juvenile Systemic Sclerosis (jssc) and Juvenile Localized Scleroderma (JLS), requires an adequate number of patients and a fruitful collaboration between international centers. The clinical management of young patients suffering from these diseases is also often difficult to achieve in an effective and shared matter.

Cervical spine arthritis is a well-recognized complication of juvenile idiopathic arthritis (JIA). It is usually present in patients with more severe disease.

Dysregulation of many inflammatory cytokines, utilizing STAT signaling pathways, has been found as important contributor in initiation, progression and maintenance of inflammation in patients with Systemic Lupus Erythematosus (SLE). FoxP3+CD4+ regulatory T cells (Tregs) are important mediators of peripheral immune tolerance and their perturbed homeostasis, including expansion of CD45RA-FoxP3lo non-Treg subpopulation was reported in adult patients with SLE. Type I and II interferons (IFN I and IFN II), which are implicated in SLE pathogenesis, were shown to perturb Treg homeostasis. Many IFN regulated genes are dependent on STAT1 for optimal transcription, and STAT1 protein expression is under control of IFNs.

The antiphospholipid antibody syndrome (APS) is a multisystemic autoimmune disease characterized by thromboembolic events, pregnancy morbidity, hematologic, dermatologic, neurologic and other manifestations in the presence of elevated titers of antiphospholipid antibodies (aPL). In recent years, APS has been increasingly recognized in various pediatric autoimmune and nonautoimmune diseases, but the relatively low prevalence and heterogeneity of APS in childhood made it very difficult to study in a systematic way.

Catatonia is a rarely reviewed clinical feature of neuropsychiatric (NP) manifestation of pediatric systemic lupus erythematosus (pSLE). It is a state of neurogenic motor immobility, and behavioral abnormality manifested by stupor.

Takayasu arteritis (TA) is a rare chronic granulomatous vasculitis of large vessels. Initial symptoms and signs are usually non-specific, therefore a high index of suspicion is needed to make a timely and correct diagnosis.

Familial Mediterranean fever (FMF) is an autosomal-recessive disorder characterized by recurrent attacks of fever and serositis common in eastern Mediterranean population. Over 160 mutations have been identified in MEFV gene responsible for FMF. The most common mutations in MEFV gene are E148Q, M694I, M694V, V726A and M680I. The distribution pattern of MEFV mutation along the Mediterranean Sea is not uniform; eastern populations have the highest number of carriers (20-39%), whereas western Mediterranean populations are practically unaffected.

FMF is a very rare disease in Slovenia and so far only few cases were diagnosed. It is known that environment influences the clinical picture of FMF.

To propose a common nomenclature to refer to individuals who fulfill the American College of Rheumatology classification criteria for systemic lupus erythematosus (SLE) during childhood or adolescence.