GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 7.069
EU - Europa 5.204
AS - Asia 2.644
SA - Sud America 527
AF - Africa 81
OC - Oceania 67
Continente sconosciuto - Info sul continente non disponibili 1
Totale 15.593
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Nazione #
US - Stati Uniti d'America 7.013
PL - Polonia 1.758
RU - Federazione Russa 1.485
SG - Singapore 705
HK - Hong Kong 552
CN - Cina 550
IT - Italia 517
IE - Irlanda 440
BR - Brasile 437
KR - Corea 342
SE - Svezia 303
VN - Vietnam 167
DE - Germania 147
FI - Finlandia 137
FR - Francia 125
UA - Ucraina 106
IN - India 92
GB - Regno Unito 84
AU - Australia 63
TR - Turchia 62
NL - Olanda 43
AR - Argentina 42
ID - Indonesia 41
CA - Canada 26
CI - Costa d'Avorio 26
JP - Giappone 22
BD - Bangladesh 18
MX - Messico 18
JO - Giordania 17
ES - Italia 16
ZA - Sudafrica 16
IR - Iran 13
CO - Colombia 11
IQ - Iraq 11
AT - Austria 9
CL - Cile 9
PK - Pakistan 9
CH - Svizzera 8
EC - Ecuador 8
VE - Venezuela 8
KE - Kenya 7
CZ - Repubblica Ceca 6
SA - Arabia Saudita 6
UZ - Uzbekistan 6
IL - Israele 5
PE - Perù 5
SC - Seychelles 5
AE - Emirati Arabi Uniti 4
BE - Belgio 4
CR - Costa Rica 4
DZ - Algeria 4
EG - Egitto 4
MA - Marocco 4
PY - Paraguay 4
BG - Bulgaria 3
GR - Grecia 3
NZ - Nuova Zelanda 3
PH - Filippine 3
SN - Senegal 3
TN - Tunisia 3
AM - Armenia 2
AZ - Azerbaigian 2
BJ - Benin 2
BO - Bolivia 2
CY - Cipro 2
JM - Giamaica 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
NI - Nicaragua 2
NP - Nepal 2
OM - Oman 2
SI - Slovenia 2
UG - Uganda 2
AL - Albania 1
AO - Angola 1
BB - Barbados 1
BW - Botswana 1
BY - Bielorussia 1
DK - Danimarca 1
ET - Etiopia 1
EU - Europa 1
GE - Georgia 1
GT - Guatemala 1
HN - Honduras 1
HU - Ungheria 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
LB - Libano 1
MU - Mauritius 1
NG - Nigeria 1
TH - Thailandia 1
TO - Tonga 1
TW - Taiwan 1
UY - Uruguay 1
VG - Isole Vergini Britanniche 1
Totale 15.593
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Città #
Warsaw 1.753
Santa Clara 1.740
Fairfield 684
Ashburn 463
Hong Kong 454
Singapore 443
Dublin 437
Chandler 408
Seoul 338
Woodbridge 299
Cambridge 297
Seattle 275
Houston 253
Wilmington 238
Altamura 193
Lawrence 192
Beijing 181
Jacksonville 156
Hefei 144
Princeton 127
Paris 109
Boston 101
Los Angeles 93
Boardman 83
Ann Arbor 70
Moscow 69
Buffalo 68
Florence 68
Melbourne 57
Mumbai 55
Ho Chi Minh City 51
San Diego 50
Medford 48
The Dalles 46
Izmir 42
São Paulo 41
Kent 35
New York 31
Dong Ket 28
Jakarta 28
Falls Church 27
Milan 27
Norwalk 27
Abidjan 26
Frankfurt am Main 26
Munich 26
Dallas 24
Redondo Beach 24
Hanoi 23
Phoenix 20
Tokyo 20
Chicago 18
Turku 18
Rome 16
Clifton 15
Helsinki 15
Shanghai 15
Brooklyn 13
Langfang 13
London 13
Council Bluffs 11
Toronto 11
Chennai 10
Falkenstein 10
Hillsboro 10
Rio de Janeiro 10
Bengaluru 9
Guangzhou 9
Johannesburg 9
Denver 8
Montreal 8
Nuremberg 8
Salerno 8
Curitiba 7
Istanbul 7
Nairobi 7
Sorocaba 7
Andover 6
Atlanta 6
Barcelona 6
Belo Horizonte 6
Goiânia 6
Manchester 6
Mexico City 6
Mountain View 6
Naples 6
Poplar 6
Saint Petersburg 6
San Francisco 6
Tampa 6
Tashkent 6
Tianjin 6
Amsterdam 5
Baghdad 5
Catania 5
Lappeenranta 5
Porto Alegre 5
Salt Lake City 5
Uberlândia 5
Aosta 4
Totale 10.932
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Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 294
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 287
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 283
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 267
Lack of transmission of TT virus through immunoglobulins 261
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 261
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 256
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 252
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 246
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 243
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 242
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? 231
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 220
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 208
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 178
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 177
Timely follow-up of a GATA2 deficiency patient allows successful treatment 174
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 174
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 172
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 172
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 170
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 149
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 147
Role of regulatory T cells and FOXP3 in human diseases 144
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 143
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 140
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 138
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 137
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 132
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 131
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 131
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
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association 126
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 126
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 126
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 125
A case of antibody deficiency: CVID or XLA? 125
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 125
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 125
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
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 122
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 121
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 120
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 120
Novel molecular defects associated with very early-onset inflammatory bowel 120
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 119
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. 118
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 118
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 118
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 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
VACCINAZIONI NEGLI ALLERGICI 115
Common Presentations and Diagnostic Approaches 115
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 114
Atypical Presentations of IPEX: Expect the Unexpected 114
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 113
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome 112
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 112
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 111
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 110
A case of recurrent lower respiratory infections 110
Genetic disorders with immune dysregulation. 109
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 109
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 107
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 107
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. 106
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 105
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 105
LE IPER-IGE 104
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. 104
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 104
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 104
IL-2 Signaling Axis Defects: How Many Faces? 104
New frontiers in primary immunodeficiency disorders: immunology and beyond... 103
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 103
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 103
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 102
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 102
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 99
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 99
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 97
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 95
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 94
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 94
The evolution of cellular deficiency in GATA2 mutation. 92
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 91
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 91
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation 88
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 88
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 87
Extensive dental caries and periodontal disease in a child with GATA2 deficiency 82
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 82
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development 81
Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome. 80
Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome . 79
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
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report 77
Totale 13.619
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Categoria #
all - tutte 43.868
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 43.868
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021745 0 0 0 0 0 131 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
2025/20262.919 602 780 466 459 529 83 0 0 0 0 0 0
Totale 15.688