S. C. Mannurita

发表

Immune deficiencies, infection, and systemic immune disordersDominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

J. Yim, S. Holland, T. Torgerson, 2013 .

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.

C. Cunningham-Rundles, W. Gahl, T. Fleisher, 2020, Blood.

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

C. Doglioni, S. C. Mannurita, E. Gambineri, 2013, Clinical immunology.

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.

T. Torgerson, S. C. Mannurita, E. Gambineri, 2010, Journal of autoimmunity.

Dominant gain-of-function STAT1 mutations in FOXP3 WT IPEX-like Syndrome

Anahita, J. Yim, S. Holland, 2013 .

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

S. C. Mannurita, E. Gambineri, J. Thomas, 2014, Bone Marrow Transplantation.

RNA-binding proteins ZFP36L1 and ZFP36L2 promote cell quiescence

Manuel D. Díaz-Muñoz, S. Cook, S. Andrews, 2016, Science.

Distribution of Tankyrase-1 mRNA expression in colon cancer and its prospective correlation with progression stage.

F. Cianchi, S. Gelmini, S. C. Mannurita, 2006, Oncology reports.

CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort

R. Cate, S. C. Mannurita, E. Gambineri, 2013, European Journal of Human Genetics.

Preliminary Study on β3-Adrenoreceptor as Predictor Marker of Relapse in Ewing Sarcoma Patients

S. C. Mannurita, L. Filippi, G. Beltrami, 2020, Biomedicines.

A Case of CVID-Associated Inflammatory Bowel Disease with CTLA-4 Mutation Treated with Abatacept

S. C. Mannurita, E. Gambineri, M. Danieli, 2019, Archives of Clinical and Medical Case Reports.

IPEX Syndrome and IPEX-Related Disorders

S. C. Mannurita, E. Gambineri, S. Ciullini Mannurita, 2021 .

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome

C. Cancrini, S. C. Mannurita, E. Gambineri, 2012, Journal of autoimmunity.

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

J. Yim, S. Holland, T. Torgerson, 2013, The Journal of allergy and clinical immunology.