about
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunitySevere food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene.IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity.Defective regulatory and effector T cell functions in patients with FOXP3 mutations.Role of regulatory T cells and FOXP3 in human diseases.Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.Immunodeficiencies with autoimmune consequences.Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndromeThe evolution of cellular deficiency in GATA2 mutationICON: the early diagnosis of congenital immunodeficiencies.Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome.Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection.Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation.Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study.Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis.Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11).The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies.Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.Genetic disorders with immune dysregulation.Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells.Lack of transmission of TT virus through immunoglobulins.Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.Congenital and acquired neutropenias consensus guidelines on therapy and follow-up in childhood from the Neutropenia Committee of the Marrow Failure Syndrome Group of the AIEOP (Associazione Italiana Emato-Oncologia Pediatrica).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.Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)).Timely follow-up of a GATA2 deficiency patient allows successful treatment.Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations.Novel molecular defects associated with very early-onset inflammatory bowel.Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans?A new case of IPEX receiving bone marrow transplantationClinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) SyndromeLangerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells?Safety and immunogenicity of measles–mumps–rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Eleonora Gambineri
@ast
Eleonora Gambineri
@en
Eleonora Gambineri
@es
Eleonora Gambineri
@nl
Eleonora Gambineri
@sl
type
label
Eleonora Gambineri
@ast
Eleonora Gambineri
@en
Eleonora Gambineri
@es
Eleonora Gambineri
@nl
Eleonora Gambineri
@sl
prefLabel
Eleonora Gambineri
@ast
Eleonora Gambineri
@en
Eleonora Gambineri
@es
Eleonora Gambineri
@nl
Eleonora Gambineri
@sl
P1053
J-8747-2016
P106
P1153
7801396916
P21
P31
P3829
P3835
eleonora-gambineri
P496
0000-0002-4676-6541