GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 6.407
EU - Europa 4.590
AS - Asia 1.294
SA - Sud America 230
OC - Oceania 64
AF - Africa 45
Continente sconosciuto - Info sul continente non disponibili 1
Totale 12.631
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Nazione #
US - Stati Uniti d'America 6.386
PL - Polonia 1.746
RU - Federazione Russa 1.043
IT - Italia 494
HK - Hong Kong 481
IE - Irlanda 436
SG - Singapore 389
SE - Svezia 293
BR - Brasile 210
CN - Cina 170
FR - Francia 124
FI - Finlandia 122
UA - Ucraina 103
DE - Germania 100
IN - India 70
AU - Australia 62
GB - Regno Unito 59
TR - Turchia 54
VN - Vietnam 38
NL - Olanda 35
ID - Indonesia 27
CI - Costa d'Avorio 26
JO - Giordania 17
CA - Canada 14
ES - Italia 10
AR - Argentina 8
CH - Svizzera 6
CZ - Repubblica Ceca 6
IQ - Iraq 6
IR - Iran 6
BD - Bangladesh 5
JP - Giappone 5
KR - Corea 5
SC - Seychelles 5
UZ - Uzbekistan 5
BE - Belgio 4
CL - Cile 4
KE - Kenya 4
DZ - Algeria 3
GR - Grecia 3
IL - Israele 3
MX - Messico 3
PK - Pakistan 3
AT - Austria 2
BO - Bolivia 2
CR - Costa Rica 2
EC - Ecuador 2
LV - Lettonia 2
NP - Nepal 2
NZ - Nuova Zelanda 2
PE - Perù 2
TN - Tunisia 2
VE - Venezuela 2
ZA - Sudafrica 2
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BW - Botswana 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
GE - Georgia 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
MU - Mauritius 1
OM - Oman 1
PH - Filippine 1
TH - Thailandia 1
Totale 12.631
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Città #
Warsaw 1.744
Santa Clara 1.728
Fairfield 684
Dublin 433
Chandler 408
Hong Kong 384
Ashburn 316
Woodbridge 299
Cambridge 297
Seattle 274
Houston 247
Wilmington 236
Singapore 222
Altamura 193
Lawrence 192
Jacksonville 156
Princeton 127
Paris 109
Boston 94
Boardman 81
Ann Arbor 70
Beijing 68
Florence 60
Melbourne 57
Mumbai 50
San Diego 50
Medford 48
Izmir 42
Moscow 32
Dong Ket 28
Falls Church 27
Jakarta 27
Norwalk 27
Abidjan 26
Milan 26
Los Angeles 23
Kent 19
Hefei 16
Rome 16
São Paulo 15
Helsinki 14
New York 14
Shanghai 14
Langfang 13
Phoenix 13
Falkenstein 10
Hillsboro 10
Bengaluru 9
Buffalo 9
Toronto 9
Frankfurt am Main 8
London 8
Salerno 8
Turku 8
Guangzhou 7
The Dalles 7
Andover 6
Barcelona 6
Mountain View 6
Naples 6
Saint Petersburg 6
Belo Horizonte 5
Catania 5
Munich 5
Rio de Janeiro 5
San Francisco 5
Tashkent 5
Aosta 4
Bern 4
Brescia 4
Nairobi 4
Porto Alegre 4
Shenzhen 4
Tokyo 4
Verona 4
Viladecans 4
Yubileyny 4
Alvorada 3
Amman 3
Baghdad 3
Brasília 3
Campinas 3
Como 3
Contagem 3
Frankfurt Am Main 3
Gent 3
Guarulhos 3
Istanbul 3
Newark 3
North Bergen 3
Peschiera 3
Petah Tikva 3
Redwood City 3
Santiago 3
Seoul 3
Trento 3
Turin 3
Uberlândia 3
Utrecht 3
Anguillara Sabazia 2
Totale 9.280
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Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 274
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 263
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 262
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 251
Lack of transmission of TT virus through immunoglobulins 248
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 242
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 238
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 234
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 234
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 221
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 220
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 217
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 216
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 203
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 165
Timely follow-up of a GATA2 deficiency patient allows successful treatment 152
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 152
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 151
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 140
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 137
Role of regulatory T cells and FOXP3 in human diseases 133
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 131
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 123
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 121
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. 118
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 118
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 116
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 114
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 113
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 113
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 112
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 110
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 109
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 109
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. 108
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 108
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). 108
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 107
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 106
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 106
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 104
Novel molecular defects associated with very early-onset inflammatory bowel 103
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 102
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 102
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 102
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 101
Common Presentations and Diagnostic Approaches 100
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 99
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 99
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 98
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 98
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 98
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 98
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. 97
Genetic disorders with immune dysregulation. 97
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 97
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 96
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 96
VACCINAZIONI NEGLI ALLERGICI 93
New frontiers in primary immunodeficiency disorders: immunology and beyond... 93
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 93
A case of antibody deficiency: CVID or XLA? 93
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 93
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 92
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 91
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 89
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 89
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 88
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 87
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 87
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 86
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 86
Atypical Presentations of IPEX: Expect the Unexpected 86
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. 85
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 83
The evolution of cellular deficiency in GATA2 mutation. 83
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 80
A case of recurrent lower respiratory infections 80
IL-2 Signaling Axis Defects: How Many Faces? 80
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 79
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 79
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 79
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 78
LE IPER-IGE 78
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 76
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 72
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 72
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 70
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 69
IPEX-Like Syndrome: A Quantitative Defect of Regulatory T Cells Detected by Demethylation Analysis of the FOXP3 Locus 69
Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome . 68
The Spectrum of FOXP3 Gene Mutations and Clinical Features in IPEX Syndrome 66
RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA 66
Qualitative and Quantitative Regulatory T Cell Defects in Patients With IPEX and IPEX-Like Syndromes 66
Split chimerism may be sufficient for control of immune defects in the presence of CD3+donor cells 66
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 65
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 65
DIFFERENT DEGREE OF IMPAIRMENT IN REGULATORY AND EFFECTOR T-CELL FUNCTIONS IN PATIENTS WITH DISTINCT GENOTYPE AND PHENOTYPE 65
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome 64
Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome. 64
Totale 11.603
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Categoria #
all - tutte 36.558
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 36.558
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/202027 0 0 0 0 0 0 0 0 0 0 0 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
2024/20254.616 159 457 243 575 1.379 719 110 233 234 206 149 152
Totale 12.723