Majeed syndrome is a multi-system inflammatory disorder affecting humans that presents
with chronic multifocal osteomyelitis, congenital dyserythropoietic anemia, with or without a …

Background Fever of unknown origin (FUO) has been difficult to diagnose in pediatric
clinical practice. With the gradual change in the disease spectrum, genetic factors have …

Objective To assess the impact conferred by NOD2 variants on the clinical spectrum of
patients with systemic autoinflammatory diseases (SAIDs) in Greece. Methods Consecutive …

Abstract Familial Mediterranean Fever (FMF, OMIM ID: 249100) is the most common
autoinflammatory, autosomal recessive disease caused by mutations in the MEFV gene. It is …

Abstract Introduction/objectives Familial Mediterranean Fever (FMF) is a genetic disorder of
the innate immunity characterized by chronic inflammatory state. The diagnosis is mainly …

Objective To explore at the molecular level the phenotype of a patient suffering an
autoinflammatory syndrome which was diagnosed as familial cold autoinflammatory …

Objective To assess the possible impact conferred by co-existing variants in ME diterranean
FeVer (MEFV) and other genes on systemic autoinflammatory disease (SAID) phenotype …

Background Limited evidence suggests that variants in TNFRSF11A gene, encoding RANK,
may contribute to systemic autoinflammatory disease (SAID). Aim/Methods To estimate the …

Abstract Objectives: Familial Mediterranean Fever (FMF) is an autosomal-recessive disorder
caused by mutations in MEFV gene. Hundreds of mutations have been described in patients …

Abstract Introduction: Autoinflammatory diseases (AIDs) are caused by genetic disturbances
resulting in exaggerated innate immune responses characterized by recurrent fever attacks …