P03-005 - MEFV heterozygous mutations in PFAPA patients

Excerpt

PFAPA syndrome (acronym for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common cause of periodic fever in childhood. It is considered part of the wide family of the autoinflammatory diseases, but a genetic or molecular marker hasn't been identified yet, therefore, its etiology is still unknown. Diagnosis is essentially based on clinical criteria but, especially in younger children, it is sometimes difficult to differentiate it from other hereditary periodic fever syndromes. Familial (Mediterranean) fever (FMF) is caused by MEFV gene mutations, mostly inherited in autosomal recessive fashion. Yet, there are reports of heterozygous MEFV mutation carriers with clinical features of FMF. …