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.
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2023 (v1)PublicationUploaded on: July 3, 2024
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2021 (v1)Publication
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...
Uploaded on: March 27, 2023 -
2021 (v1)Publication
Adenosine Deaminase 2 Deficiency (DADA2) (OMIM: 607575) is a monogenic, autoin-flammatory disease caused by the loss of functional homozygous or heterozygous mutations in the ADA 2 gene (previously CECR1, Cat Eye Syndrome Chromosome Region 1). A timely diagnosis is crucial to start Anti-TNF therapies that are efficacious in controlling the...
Uploaded on: April 14, 2023 -
2022 (v1)Publication
Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease associated with a highly variable clinical presentation, including systemic vasculitis, immunodeficiency, and cytopenia. We report a case of a 16-year-old girl affected by recurrent viral infections [including cytomegalovirus (CMV)-related hepatitis and measles...
Uploaded on: July 3, 2024 -
2021 (v1)Publication
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...
Uploaded on: April 14, 2023