Health Science Journal

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Identification of a New Candidate Gene for the Etiology of Periodic Fever Syndrome: CSF1R

XX Congresso Regionale FADOI CAMPANIA: Non ci siamo mai fermati
Italy 2021

Del Mastro A, Bresciani A, Cannavale A, Grassi S, Oro M, Rivieccio M, Tarsitano M, Orlando F, Chetta M and Laccetti M

AORN A. Cardarelli, Internal Medicine Division 1, Immunology Unit, Via A. Cardarelli 9, 80131 Napoli, Italy
AORN A. Cardarelli, Human Genetics and Laboratories Unit, Via A. Cardarelli 9, 80131 Napoli, Italy
AORN Santobono, Pausilipon, Pediatrics Division, Via M. Fiore 6, 80129 Napoli, Italy

Posters & Accepted Abstracts: Health Sci J


Background and aims: Periodic fever syndromes (PFS) are rare innate immunity disorders caused by single gene mutations triggering chronic/periodic systemic inflammation. Syndrome of Undifferentiated Recurrent Fever (SURF) definition includes all the cases lacking gene confirmation. Here we report the identification of a new candidate gene for PFS detected in a young patient. Materials/patient and methods: Female, aged 15 years, our patient has been suffering from recurrent fever, arthralgias, pericarditis, peritonitis and oral aphtosis. The standard PFS genes panel was negative. Hence we performed a family whole exome sequencing (WES). Results: We identified in our proband a CSF1R gene de novo transition (c.1735 C>T) causing the substitution p.Arg579Trp. CSF1R encodes the receptor of CSF1 and IL-34, two cytokines mediating macrophage production, differentiation and activation. CSF1R mutations are already described as risk factors for myeloid neoplasms. Discussion: We detected a new PFS candidate gene that may be found in other SURF patients, leading to a better understanding of such syndromes and contributing to the improvement of their management. This should include for our patient a hematologic monitoring, since we also found another already known mutation in the same gene inherited from her mother, who was previously diagnosed a Hodgkin Lymphoma.