Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor recepto...

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin 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 grou...

This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal v...

This study examines the frequency of TNFRSF1A gene R92Q mutation in patients with Familial Mediterranean Fever (FMF) and the role of this mutation in FMF. The study included 223 FMF patients with definite diagnosis, according to Tel-Hashomer criteria, carrying two mutations and 205 FMF patients as controls (symptomatically diagnosed) with definite diagnosis but without any of the MEFV gene muta...

Volume 91, Number 2 www.aafp.org/afp American Family Physician 125 Case Scenario My patient’s wife died of pancreatic adenocarcinoma at 35 years of age. After her death, her doctor told my patient that their child might be at increased risk of developing pancreatic cancer. My patient asked if pancreatic screening and genetic testing were available for his eight-year-old daughter. He was referre...

The largest worldwide population screening for cancer family syndromes was initiated in January 2001 in the West Pomeranian Region of Poland with 1.7 m inhabitants. In the first step in the period January 2001 – May 2002 family doctors and nurses collected questionnaires asking about cancer family history among 1st and 2nd degree relatives from 1,258,401 of 1.5 m individuals (87%) who were insu...

Autoinflammatory diseases are rare disorders secondary to mutation of genes involved in the regulation of innate immunity. The main limitation to a better knowledge of Autoinflammatory diseases is related to the extreme fragmentation of the diagnosed cases that are spread over different centers and countries. The general aim of the Eurofever Project was to build an international registry on Aut...