GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 7.974
EU - Europa 5.555
AS - Asia 3.565
SA - Sud America 580
AF - Africa 115
OC - Oceania 68
Continente sconosciuto - Info sul continente non disponibili 1
Totale 17.858
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Nazione #
US - Stati Uniti d'America 7.890
PL - Polonia 1.758
RU - Federazione Russa 1.485
SG - Singapore 934
CN - Cina 774
IT - Italia 611
HK - Hong Kong 574
BR - Brasile 459
IE - Irlanda 445
VN - Vietnam 424
KR - Corea 344
SE - Svezia 303
FR - Francia 251
FI - Finlandia 192
DE - Germania 168
UA - Ucraina 112
IN - India 110
GB - Regno Unito 108
BD - Bangladesh 107
TR - Turchia 65
AU - Australia 64
AR - Argentina 53
NL - Olanda 49
JP - Giappone 48
ID - Indonesia 45
CA - Canada 38
CI - Costa d'Avorio 26
MX - Messico 26
IQ - Iraq 22
ZA - Sudafrica 20
JO - Giordania 19
ES - Italia 18
CO - Colombia 17
CL - Cile 14
IR - Iran 14
NG - Nigeria 14
PK - Pakistan 12
EC - Ecuador 11
AT - Austria 10
KE - Kenya 10
SA - Arabia Saudita 10
CH - Svizzera 9
UZ - Uzbekistan 9
VE - Venezuela 9
AE - Emirati Arabi Uniti 8
DZ - Algeria 8
GR - Grecia 7
PE - Perù 7
PH - Filippine 7
TN - Tunisia 7
CR - Costa Rica 6
CZ - Repubblica Ceca 6
IL - Israele 6
MA - Marocco 6
PY - Paraguay 6
EG - Egitto 5
JM - Giamaica 5
SC - Seychelles 5
TH - Thailandia 5
BE - Belgio 4
BG - Bulgaria 4
DK - Danimarca 4
LB - Libano 4
SN - Senegal 4
AZ - Azerbaigian 3
NZ - Nuova Zelanda 3
AM - Armenia 2
BH - Bahrain 2
BJ - Benin 2
BO - Bolivia 2
CY - Cipro 2
HN - Honduras 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
MY - Malesia 2
NI - Nicaragua 2
NP - Nepal 2
OM - Oman 2
SI - Slovenia 2
TW - Taiwan 2
UG - Uganda 2
UY - Uruguay 2
AL - Albania 1
AO - Angola 1
BB - Barbados 1
BW - Botswana 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
ET - Etiopia 1
EU - Europa 1
GE - Georgia 1
GT - Guatemala 1
GW - Guinea-Bissau 1
HU - Ungheria 1
KG - Kirghizistan 1
KH - Cambogia 1
KW - Kuwait 1
MK - Macedonia 1
ML - Mali 1
Totale 17.852
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Città #
Warsaw 1.753
Santa Clara 1.747
Fairfield 684
Singapore 660
Ashburn 641
Hong Kong 471
Dublin 441
Chandler 408
Seoul 338
Woodbridge 299
Cambridge 297
Seattle 276
Houston 256
San Jose 250
Wilmington 238
Altamura 193
Lawrence 192
Beijing 187
Jacksonville 157
Hefei 144
The Dalles 130
Ho Chi Minh City 128
Princeton 127
Lauterbourg 116
Los Angeles 111
Paris 110
Boston 102
Hanoi 87
Council Bluffs 86
Boardman 83
Buffalo 76
Florence 76
Ann Arbor 70
Moscow 69
Helsinki 67
New York 62
Melbourne 57
Mumbai 57
San Diego 50
Medford 48
Tokyo 45
Izmir 42
São Paulo 42
Frankfurt am Main 39
Milan 36
Kent 35
Dallas 30
Jakarta 29
Dong Ket 28
Falls Church 27
Norwalk 27
Rome 27
Abidjan 26
Munich 26
Chicago 24
Phoenix 24
Redondo Beach 24
Orem 23
Shanghai 18
Turku 18
Guangzhou 17
Brooklyn 16
Clifton 15
London 15
Naples 15
Toronto 14
Abuja 13
Chennai 13
Da Nang 13
Denver 13
Langfang 13
Montreal 12
Johannesburg 11
Nuremberg 11
Rio de Janeiro 11
Atlanta 10
Falkenstein 10
Hillsboro 10
Nairobi 10
San Francisco 10
Amsterdam 9
Bengaluru 9
Istanbul 9
Manchester 9
Shenzhen 9
Dhaka 8
Haiphong 8
Lappeenranta 8
Salerno 8
Tampa 8
Tashkent 8
Tianjin 8
Curitiba 7
Sorocaba 7
Andover 6
Baghdad 6
Barcelona 6
Belo Horizonte 6
Brescia 6
Erbil 6
Totale 12.337
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Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 319
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 315
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 312
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 300
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 292
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 281
Lack of transmission of TT virus through immunoglobulins 278
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 272
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 270
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 267
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 265
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 255
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 253
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 247
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 233
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 222
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 196
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 194
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 193
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 190
Timely follow-up of a GATA2 deficiency patient allows successful treatment 190
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 187
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 175
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 168
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 160
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 159
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association 157
Role of regulatory T cells and FOXP3 in human diseases 154
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 152
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 151
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 150
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 146
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 145
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome 142
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 142
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 140
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. 139
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 139
A case of antibody deficiency: CVID or XLA? 138
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 137
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 137
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 136
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 136
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 135
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 134
Novel molecular defects associated with very early-onset inflammatory bowel 133
Atypical Presentations of IPEX: Expect the Unexpected 133
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 133
VACCINAZIONI NEGLI ALLERGICI 131
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 130
Genetic disorders with immune dysregulation. 130
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 130
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 130
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 129
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 128
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 127
Common Presentations and Diagnostic Approaches 127
IL-2 Signaling Axis Defects: How Many Faces? 127
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 125
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). 125
A case of recurrent lower respiratory infections 125
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 124
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 123
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 123
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. 122
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 122
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 122
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 120
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 119
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 119
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 118
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 118
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. 117
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 117
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 116
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 116
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation 115
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 115
Extensive dental caries and periodontal disease in a child with GATA2 deficiency 114
LE IPER-IGE 114
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 114
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 114
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 113
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. 113
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 109
New frontiers in primary immunodeficiency disorders: immunology and beyond... 109
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 105
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 104
The evolution of cellular deficiency in GATA2 mutation. 104
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 103
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation 102
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 102
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 101
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development 101
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report 100
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 100
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 96
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome 94
Refractory Thrombocytopenia is the Earliest Diagnostic Criterion for Sinusoidal Obstruction Syndrome in Children 92
RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA 92
Totale 15.288
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Categoria #
all - tutte 49.632
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 49.632
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021163 0 0 0 0 0 0 0 0 0 0 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
2025/20265.190 602 780 466 459 529 220 682 331 399 397 325 0
Totale 17.959