Search results for "Periodic fever"

The labyrinth of autoinflammatory disorders: a snapshot on the activity of a third-level center in Italy.

2015

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the perio…

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

2020

Crisponi syndrome/CISS1, is an autosomal recessive ciliary neurotrophic factor receptor (CNTFR)-related genodermatosis caused in 95% of cases by mutations in CRLF1 on chromosome 19p13. The CNTFR pathway is important for CNS development. Crisponi syndrome/ CISS1 can be suspected in the presence of the following clinical triad: camptodactyly with fisted hands, intermittent hyperthermia and muscular contractions with feeding difficulties.

Periodic fever: a case report.

2013

Perspective validation of the eurofever classification criteria for monogenic periodic fevers.

2014

We recently proposed a set of provisional, evidence-based, clinical criteria for the classification of children and adults patients affected by monogenic periodic fevers. These criteria, built and validated in a cohort of 1215 patients with periodic fever enrolled in the Eurofever Registry from November 2009 to February 2013, displayed a high sensitivity and specificity.