GAMBINERI, ELEONORA
 Distribuzione geografica
Continente #
NA - Nord America 4.952
EU - Europa 4.319
AS - Asia 726
AF - Africa 33
SA - Sud America 19
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.057
Nazione #
US - Stati Uniti d'America 4.938
PL - Polonia 1.743
RU - Federazione Russa 1.032
IE - Irlanda 436
IT - Italia 435
SE - Svezia 293
HK - Hong Kong 241
SG - Singapore 224
FI - Finlandia 101
UA - Ucraina 101
CN - Cina 86
DE - Germania 76
IN - India 58
TR - Turchia 51
GB - Regno Unito 50
VN - Vietnam 38
CI - Costa d'Avorio 26
BR - Brasile 14
JO - Giordania 14
NL - Olanda 12
FR - Francia 11
CA - Canada 10
ES - Italia 10
CZ - Repubblica Ceca 6
IR - Iran 6
AU - Australia 5
CH - Svizzera 5
SC - Seychelles 5
BE - Belgio 4
KR - Corea 4
CR - Costa Rica 2
GR - Grecia 2
JP - Giappone 2
MX - Messico 2
NZ - Nuova Zelanda 2
PE - Perù 2
VE - Venezuela 2
AR - Argentina 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
KH - Cambogia 1
LV - Lettonia 1
MU - Mauritius 1
PH - Filippine 1
Totale 10.057
Città #
Warsaw 1.742
Fairfield 684
Santa Clara 495
Dublin 433
Chandler 408
Ashburn 312
Woodbridge 299
Cambridge 297
Seattle 270
Houston 247
Wilmington 236
Altamura 193
Lawrence 192
Singapore 169
Jacksonville 155
Hong Kong 146
Princeton 127
Boston 93
Boardman 81
Ann Arbor 70
Florence 52
Mumbai 50
San Diego 50
Medford 48
Izmir 42
Beijing 35
Moscow 32
Dong Ket 28
Falls Church 27
Norwalk 27
Abidjan 26
Milan 21
Los Angeles 20
Kent 19
New York 14
Shanghai 14
Langfang 13
Phoenix 13
Rome 11
Hillsboro 10
Salerno 8
Toronto 8
Buffalo 7
Guangzhou 7
Andover 6
Barcelona 6
London 6
Mountain View 6
Paris 6
Saint Petersburg 6
Catania 5
Aosta 4
Bern 4
Naples 4
Verona 4
Viladecans 4
Yubileyny 4
Como 3
Frankfurt Am Main 3
Gent 3
Munich 3
Peschiera 3
Redwood City 3
San Francisco 3
Seoul 3
Trento 3
Turin 3
Utrecht 3
Alvorada 2
Anguillara Sabazia 2
Bari 2
Bengaluru 2
Brescia 2
Castellammare di Stabia 2
Collecorvino 2
Copparo 2
Cuauhtémoc 2
Duncan 2
Gela 2
Genoa 2
Heredia 2
Leawood 2
Lima 2
Naaldwijk 2
New Bedfont 2
Palermo 2
Perth 2
Pune 2
Redmond 2
San Cristóbal 2
San Mateo 2
St Petersburg 2
Trieste 2
Vaiano 2
Zhengzhou 2
Alexandria 1
Ankara 1
Anzola dell'Emilia 1
Asahicho 1
Atlanta 1
Totale 7.388
Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 256
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 244
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 237
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 229
Lack of transmission of TT virus through immunoglobulins 224
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 223
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 220
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 215
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 212
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 206
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 200
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 188
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 186
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 185
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 133
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 131
Timely follow-up of a GATA2 deficiency patient allows successful treatment 125
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 122
Role of regulatory T cells and FOXP3 in human diseases 114
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 114
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 109
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 108
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 105
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 104
Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis. 101
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 97
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 95
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 95
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 94
OR.5. The Naturally Occurring Splice Variant of FOXP3 Lacking Exon 2 is not Sufficient to Maintain Immune Homeostasis and Prevent IPEX in vivo in Humans 92
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 90
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 89
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 89
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 88
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). 88
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 88
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 88
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. 87
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 85
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 85
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 83
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 83
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 83
Common Presentations and Diagnostic Approaches 82
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 81
Novel molecular defects associated with very early-onset inflammatory bowel 81
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 80
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 80
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 80
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 79
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 79
Genetic disorders with immune dysregulation. 78
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. 77
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 77
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 76
New frontiers in primary immunodeficiency disorders: immunology and beyond... 75
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 75
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 73
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 72
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 71
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 71
VACCINAZIONI NEGLI ALLERGICI 69
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 69
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 68
A case of antibody deficiency: CVID or XLA? 67
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 67
Yeganeh M, Gambineri E, Abolmaali K, Tamizifar B, Español T: Other Well-Defined Immunodeficiencies (chapter 9); Textbook: Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management. Ed Nima Rezaei , Asghar Aghamohammadi, Luigi D. Notarangelo; Springer, 2008. 65
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 65
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 65
The evolution of cellular deficiency in GATA2 mutation. 65
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 63
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 62
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 62
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 61
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 61
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 60
A case of recurrent lower respiratory infections 59
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 58
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 57
Atypical Presentations of IPEX: Expect the Unexpected 57
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 57
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 56
IL-2 Signaling Axis Defects: How Many Faces? 55
LE IPER-IGE 54
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 52
IPEX-Like Syndrome: A Quantitative Defect of Regulatory T Cells Detected by Demethylation Analysis of the FOXP3 Locus 51
RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA 50
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 49
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 49
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 48
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 48
The Spectrum of FOXP3 Gene Mutations and Clinical Features in IPEX Syndrome 47
DIFFERENT DEGREE OF IMPAIRMENT IN REGULATORY AND EFFECTOR T-CELL FUNCTIONS IN PATIENTS WITH DISTINCT GENOTYPE AND PHENOTYPE 47
Qualitative and Quantitative Regulatory T Cell Defects in Patients With IPEX and IPEX-Like Syndromes 47
Split chimerism may be sufficient for control of immune defects in the presence of CD3+donor cells 47
Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome. 47
Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome . 46
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 46
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 46
Proteomics plus genomics approaches in primary immunodeficiency: the caseof immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)syndrome. 45
Totale 9.464
Categoria #
all - tutte 29.548
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 29.548


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.270 0 0 0 0 213 210 178 223 175 100 144 27
2020/20211.179 101 123 56 110 44 131 80 81 115 175 70 93
2021/2022702 15 81 45 10 39 44 28 62 53 25 69 231
2022/20231.880 192 434 49 110 170 356 230 97 157 12 61 12
2023/2024633 41 71 118 33 42 45 23 166 9 29 42 14
2024/20252.029 159 457 243 575 595 0 0 0 0 0 0 0
Totale 10.136