PAPA R.

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Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical...

Type I interferonopathies are a clinically heterogeneous group of inherited disorders of the innate immune system characterized by constitutive activation of the type I interferon signaling pathway. Cutaneous vasculopathy, lipodystrophy, interstitial lung disease and brain calcifications are the typical manifestations characterizing affected...

Background: Hyperferritinemic syndromes are systemic inflammatory disorders characterized by a dysfunctional immune response, which leads to excessive activation of the monocyte-macrophage system with hypercytokinemia and may pursue a rapidly fatal course. Case presentation: We describe two patients of 11 and 9 years of age with...

Syndrome of undifferentiated recurrent fever (SURF) is a heterogeneous group of auto-inflammatory diseases (AID) characterized by self-limiting episodes of systemic inflammation without a confirmed molecular diagnosis, not fulfilling the criteria for periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome. In this...

A growing number of monogenic immune-mediated diseases have been related to genes involved in pathways of actin cytoskeleton remodeling. Increasing evidences associate cytoskeleton defects to autoinflammatory diseases and primary immunodeficiencies. We reviewed the pathways of actin cytoskeleton remodeling in order to identify inflammatory and...

(1) Background: Familial Mediterranean Fever (FMF) is the prototypal autoinflammatory disease, characterized by recurrent bursts of neutrophilic inflammation. (2) Methods: In this study we look at the most recent literature on this condition and integrate it with novel information on treatment resistance and compliance. (3) Results: The...

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The authors regret " the correct affiliation of Federica Penco and Ignazia Prigione is: a Centro Malattie Autoinfiammatorie e Immunodeficienze, Clinica Pediatrica - Reumatologia, IRCCS Istituto Giannina Gaslini, Genoa, Italy" The authors would like to apologise for any inconvenience caused.

Syndrome of undifferentiated recurrent fever (SURF) is characterized by recurrent fevers, a lack of confirmed molecular diagnosis, and a complete or partial response to colchicine. Despite the clinical similarities to familial Mediterranean fever (FMF), the underlying inflammatory mechanisms of SURF are not yet understood. We here analyzed the...

The title of the article has been changed from 'Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers' to 'Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers'.

RAS-associated autoimmune leukoproliferative disease (RALD) is a rare immune dysregulation syndrome caused by somatic gain-of-function mutations of either NRAS or KRAS gene in hematopoietic cells. We describe a 27-year-old patient presenting at 5 months of age with recurrent infections and generalized lymphadenopathy who developed a complex...