Dr Carlo Dufour
G.Gaslini, Research Children’s Hospital

Address:. Largo G. Gaslini 5, 
16147 Genova-Italy
Email: carlodufour@gaslini.org
Tel:    +39 010 56363530/28

My current research interest in neutropenia is focused mainly on characyerization of genetic background , of geno-phenotype correlation and on pathogenic mechanisms of either primary and secondary autoimmune neutropenias with special attention to those forms that may mimic a marrow failure status but turn out to sustained by immune dysregulations.

We are also interestes in investigating pathogenic involvement of pro-apoptotc intacellular pathways. 

Involved in immune neutropenias. Since the Unit I chair is the seat of the Italian Registries of Neutropenia and of ALPS( Auoimmune Lympho proliferative Syndrome) we also perform the genetic/phenotypic diagnosis and clinical caractherization of these diseases. Finally we conduct inteventional clinica trials on Peghilated G-CSF in neutropenias and on T Cell Depleted Stem Cell Transplantaion in neutropenias and bone marrow failure patients.

Clinical Pediatric Haematology with special experience in patients with constitutional and acquired  neutropenias and bone marrow failure disorders (Acquired Aplastic Anemia, Fanconi Anemia, Telomere   Biology Diseases)

• Flow cytometry of PB and BM.
• BM cultures of HSCs. 
• Traditional Molecular BIlogy (Sanger). 
• Real-time PCR.
• NGS panel /WES.
• Anti-neutrophil antibody screening. (indirect testing) GIFT with Flow Cytometry reading.
• Telomere length measuremet ( Flow Fish).
• Inflammatory cytokines levels ( ELISA).  

• Idiopathic neutropenia of infancy: Data from the Italian Neutropenia Registry. Farruggia P, Fioredda F, Puccio G, Onofrillo D, Russo G, Barone A, Bonanomi S, Boscarol G, Finocchi A, Ghilardi R, Giordano P, Ladogana S, Lassandro G, Luti L, Lanza T, Mandaglio R, Marra N, Martire B, Mastrodicasa E, Motta M, Notarangelo LD, Pillon M, Porretti L, Serafinelli J, Trizzino A, Tucci F, Veltroni M, Verzegnassi F, Ramenghi U, Dufour C. Am J Hematol. 2019 Feb;94(2):216-222. 
• Autoimmune neutropenia of childhood secondary to other autoimmune disorders: Data from the Italian neutropenia registry. Farruggia P, Puccio G, Fioredda F, Lanza T, Porretti L, Ramenghi U, Barone A, Bonanomi S, Finocchi A, Ghilardi R, Ladogana S, Marra N, Martire B, Notarangelo LD, Onofrillo D, Pillon M, Russo G, Lo Valvo L, Serafinelli J, Tucci F, Zunica F, Verzegnassi F, Dufour C.
• Long-term use of pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data. Fioredda F, Lanza T, Gallicola F, Riccardi F, Lanciotti M, Mastrodicasa E, Signa S, Zanardi S, Calvillo M, Dufour C. Blood. 2016 Oct 27;128(17):2178-2181.
• Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Fioredda F, Iacobelli S, van Biezen A, Gaspar B, Ancliff P, Donadieu J, Aljurf M, Peters C, Calvillo M, Matthes-Martin S, Morreale G, van 't Veer-Tazelaar N, de Wreede L, Al Seraihy A, Yesilipek A, Fischer A, Bierings M, Ozturk G, Smith O, Veys P, Ljungman P, Peffault de Latour R, Sánchez de Toledo Codina J, Or R, Ganser A, Afanasyev B, Wynn R, Kalwak K, Marsh J, Dufour C; Severe Aplastic Anemia the Inborn Error, and the Pediatric Disease Working Parties of the European Society for Blood and Bone Marrow Transplantation (EBMT) and Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE). Blood. 2015 Oct 15;126(16):1885-92