GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 6.916
EU - Europa 5.170
AS - Asia 2.457
SA - Sud America 481
AF - Africa 74
OC - Oceania 66
Continente sconosciuto - Info sul continente non disponibili 1
Totale 15.165
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Nazione #
US - Stati Uniti d'America 6.870
PL - Polonia 1.758
RU - Federazione Russa 1.480
SG - Singapore 613
HK - Hong Kong 544
CN - Cina 537
IT - Italia 512
IE - Irlanda 440
BR - Brasile 411
KR - Corea 340
SE - Svezia 298
DE - Germania 141
FI - Finlandia 136
VN - Vietnam 130
FR - Francia 125
UA - Ucraina 105
IN - India 86
GB - Regno Unito 82
AU - Australia 63
TR - Turchia 58
NL - Olanda 41
ID - Indonesia 35
AR - Argentina 34
CI - Costa d'Avorio 26
CA - Canada 22
JP - Giappone 18
JO - Giordania 17
ES - Italia 16
MX - Messico 16
BD - Bangladesh 14
ZA - Sudafrica 14
IR - Iran 12
IQ - Iraq 10
CO - Colombia 8
EC - Ecuador 8
AT - Austria 7
CH - Svizzera 7
PK - Pakistan 7
CL - Cile 6
CZ - Repubblica Ceca 6
KE - Kenya 6
UZ - Uzbekistan 6
SC - Seychelles 5
VE - Venezuela 5
BE - Belgio 4
CR - Costa Rica 4
EG - Egitto 4
IL - Israele 4
MA - Marocco 4
PE - Perù 4
AE - Emirati Arabi Uniti 3
DZ - Algeria 3
GR - Grecia 3
PH - Filippine 3
PY - Paraguay 3
SA - Arabia Saudita 3
TN - Tunisia 3
AM - Armenia 2
BG - Bulgaria 2
BJ - Benin 2
BO - Bolivia 2
CY - Cipro 2
LV - Lettonia 2
NP - Nepal 2
NZ - Nuova Zelanda 2
OM - Oman 2
SI - Slovenia 2
UG - Uganda 2
AL - Albania 1
AO - Angola 1
AZ - Azerbaigian 1
BB - Barbados 1
BW - Botswana 1
DK - Danimarca 1
ET - Etiopia 1
EU - Europa 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
JM - Giamaica 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
KZ - Kazakistan 1
LB - Libano 1
LT - Lituania 1
MU - Mauritius 1
SN - Senegal 1
TH - Thailandia 1
TO - Tonga 1
TW - Taiwan 1
Totale 15.165
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Città #
Warsaw 1.753
Santa Clara 1.739
Fairfield 684
Hong Kong 447
Dublin 437
Ashburn 409
Chandler 408
Singapore 383
Seoul 338
Woodbridge 299
Cambridge 297
Seattle 275
Houston 252
Wilmington 238
Altamura 193
Lawrence 192
Beijing 179
Jacksonville 156
Hefei 144
Princeton 127
Paris 109
Boston 101
Los Angeles 87
Boardman 81
Ann Arbor 70
Moscow 69
Florence 68
Buffalo 66
Melbourne 57
Mumbai 54
San Diego 50
Medford 48
Izmir 42
Ho Chi Minh City 38
São Paulo 36
Kent 35
New York 29
Dong Ket 28
Falls Church 27
Jakarta 27
Norwalk 27
Abidjan 26
Milan 26
Munich 26
Redondo Beach 24
Dallas 21
Frankfurt am Main 21
Phoenix 19
Turku 18
Rome 16
Tokyo 16
Clifton 15
Hanoi 15
Helsinki 15
Shanghai 15
Chicago 14
Langfang 13
London 13
Brooklyn 12
Council Bluffs 11
Toronto 11
Chennai 10
Falkenstein 10
Hillsboro 10
Bengaluru 9
Guangzhou 9
Johannesburg 9
Rio de Janeiro 9
Salerno 8
The Dalles 8
Nuremberg 7
Andover 6
Barcelona 6
Belo Horizonte 6
Curitiba 6
Denver 6
Goiânia 6
Manchester 6
Mexico City 6
Mountain View 6
Nairobi 6
Naples 6
Saint Petersburg 6
San Francisco 6
Sorocaba 6
Tashkent 6
Catania 5
Montreal 5
Porto Alegre 5
Tianjin 5
Uberlândia 5
Amsterdam 4
Aosta 4
Atlanta 4
Baghdad 4
Bern 4
Brasília 4
Brescia 4
Contagem 4
Da Nang 4
Totale 10.686
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Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 289
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 281
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 279
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 265
Lack of transmission of TT virus through immunoglobulins 258
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 255
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 253
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 251
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 246
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 241
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 238
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 233
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 228
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 215
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 198
Timely follow-up of a GATA2 deficiency patient allows successful treatment 171
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 170
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 167
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 167
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 167
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 166
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 166
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 147
Role of regulatory T cells and FOXP3 in human diseases 142
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 140
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 137
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 135
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 134
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 132
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. 130
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 130
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 127
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 125
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 124
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 124
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 123
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 123
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 122
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 121
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 120
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 119
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 118
A case of antibody deficiency: CVID or XLA? 118
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association 117
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 117
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. 117
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). 117
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 116
Novel molecular defects associated with very early-onset inflammatory bowel 115
VACCINAZIONI NEGLI ALLERGICI 114
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 114
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 114
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 114
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 113
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 111
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 111
Common Presentations and Diagnostic Approaches 111
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 110
Atypical Presentations of IPEX: Expect the Unexpected 110
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 109
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 109
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 107
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome 106
Genetic disorders with immune dysregulation. 106
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. 105
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 105
A case of recurrent lower respiratory infections 104
LE IPER-IGE 103
New frontiers in primary immunodeficiency disorders: immunology and beyond... 103
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 103
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 102
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 102
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 102
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 101
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. 100
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 100
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 100
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 99
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 99
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 99
IL-2 Signaling Axis Defects: How Many Faces? 98
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 97
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 95
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 92
The evolution of cellular deficiency in GATA2 mutation. 92
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 91
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 91
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 90
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 86
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 85
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation 84
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 83
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 81
RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA 79
IPEX-Like Syndrome: A Quantitative Defect of Regulatory T Cells Detected by Demethylation Analysis of the FOXP3 Locus 79
Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome . 77
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 76
DIFFERENT DEGREE OF IMPAIRMENT IN REGULATORY AND EFFECTOR T-CELL FUNCTIONS IN PATIENTS WITH DISTINCT GENOTYPE AND PHENOTYPE 75
Split chimerism may be sufficient for control of immune defects in the presence of CD3+donor cells 75
The Spectrum of FOXP3 Gene Mutations and Clinical Features in IPEX Syndrome 74
Totale 13.280
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Categoria #
all - tutte 42.636
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 42.636
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021789 0 0 0 0 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
2024/20254.662 159 457 243 575 1.379 719 110 233 234 206 149 198
2025/20262.490 602 780 466 459 183 0 0 0 0 0 0 0
Totale 15.259