Wild-type FOXP 3 is selectively active in CD 4 CD 25 hi regulatory T cells of healthy female carriers of different FOXP 3 mutations

1San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy; 2University of Rome Tor Vergata, Rome, Italy; 3Human Genetics Laboratory, Galliera Hospital, Genoa, Italy; 4Department of Surgery, University of British Columbia, Vancouver, BC; 5Epiontis GmbH, Berlin, Germany; 6Pediatric Gastroenterology, Gaslini Hospital, Genoa, Italy; 7Pediatric Immunology Laboratory, Istitutio di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofalo, Trieste, Italy; 8Cystic Fybrosis Center, Verona, Italy; and 9Vita Salute San Raffaele University, Milan, Italy

[1]  L. Naldini,et al.  Regulated and multiple miRNA and siRNA delivery into primary cells by a lentiviral platform. , 2009, Molecular therapy : the journal of the American Society of Gene Therapy.

[2]  T. Lion,et al.  Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation. , 2009, Blood.

[3]  Fabian Model,et al.  Quantitative DNA methylation analysis of FOXP3 as a new method for counting regulatory T cells in peripheral blood and solid tissue. , 2009, Cancer research.

[4]  W. Friedrich,et al.  Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. , 2008, The Journal of allergy and clinical immunology.

[5]  D. Unutmaz,et al.  Identification of a Regulatory T Cell Specific Cell Surface Molecule that Mediates Suppressive Signals and Induces Foxp3 Expression , 2008, PloS one.

[6]  M. Dubé,et al.  No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. , 2008, The Journal of clinical investigation.

[7]  L. Naldini,et al.  Generation of potent and stable human CD4+ T regulatory cells by activation-independent expression of FOXP3. , 2008, Molecular therapy : the journal of the American Society of Gene Therapy.

[8]  I. Türbachova,et al.  DNA demethylation in the human FOXP3 locus discriminates regulatory T cells from activated FOXP3+ conventional T cells , 2007, European journal of immunology.

[9]  T. Chatila,et al.  Regulatory T cell development in the absence of functional Foxp3 , 2007, Nature Immunology.

[10]  M. Roncarolo,et al.  Activation-induced FOXP3 in human T effector cells does not suppress proliferation or cytokine production. , 2007, International immunology.

[11]  Vincent C. Manganiello,et al.  Foxp3-dependent programme of regulatory T-cell differentiation , 2007, Nature.

[12]  T. Huizinga,et al.  Transient expression of FOXP3 in human activated nonregulatory CD4+ T cells , 2007, European journal of immunology.

[13]  S. Davies,et al.  Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning. , 2007, Blood.

[14]  S. Ziegler,et al.  Defective regulatory and effector T cell functions in patients with FOXP3 mutations. , 2006, The Journal of clinical investigation.

[15]  S. Sakaguchi.  Naturally arising Foxp3-expressing CD25+CD4+ regulatory T cells in immunological tolerance to self and non-self , 2005, Nature Immunology.

[16]  R. Badolato,et al.  X‐chromosome inactivation analysis in a female carrier of FOXP3 mutation , 2002, Clinical and experimental immunology.

[17]  H. Ochs,et al.  The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 , 2001, Nature Genetics.

[18]  J. Casanova,et al.  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy , 2001, Nature Genetics.

[19]  O. Parolini,et al.  A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies. , 1997, Life sciences.