GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 9.129
EU - Europa 6.459
AS - Asia 3.676
SA - Sud America 601
AF - Africa 118
Continente sconosciuto - Info sul continente non disponibili 106
OC - Oceania 68
Totale 20.157
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Nazione #
US - Stati Uniti d'America 8.934
PL - Polonia 1.758
IT - Italia 1.497
RU - Federazione Russa 1.485
SG - Singapore 941
CN - Cina 779
HK - Hong Kong 577
BR - Brasile 469
IE - Irlanda 445
VN - Vietnam 427
KR - Corea 344
SE - Svezia 303
FR - Francia 251
FI - Finlandia 192
BD - Bangladesh 182
DE - Germania 170
CA - Canada 124
IN - India 116
GB - Regno Unito 114
UA - Ucraina 112
TR - Turchia 66
AU - Australia 64
AR - Argentina 54
NL - Olanda 52
JP - Giappone 51
ID - Indonesia 46
MX - Messico 28
CI - Costa d'Avorio 26
IQ - Iraq 22
ZA - Sudafrica 20
CO - Colombia 19
JO - Giordania 19
ES - Italia 18
CL - Cile 14
IR - Iran 14
NG - Nigeria 14
CR - Costa Rica 13
EC - Ecuador 13
JM - Giamaica 12
PK - Pakistan 12
VE - Venezuela 12
KE - Kenya 11
AT - Austria 10
SA - Arabia Saudita 10
CH - Svizzera 9
UZ - Uzbekistan 9
AE - Emirati Arabi Uniti 8
DZ - Algeria 8
PE - Perù 8
PH - Filippine 8
GR - Grecia 7
PY - Paraguay 7
TH - Thailandia 7
TN - Tunisia 7
CZ - Repubblica Ceca 6
IL - Israele 6
MA - Marocco 6
SC - Seychelles 6
BE - Belgio 5
EG - Egitto 5
MY - Malesia 5
BG - Bulgaria 4
DK - Danimarca 4
LB - Libano 4
SN - Senegal 4
AZ - Azerbaigian 3
CW - ???statistics.table.value.countryCode.CW??? 3
HN - Honduras 3
NI - Nicaragua 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
UY - Uruguay 3
AL - Albania 2
AM - Armenia 2
BH - Bahrain 2
BJ - Benin 2
BO - Bolivia 2
CY - Cipro 2
KG - Kirghizistan 2
KZ - Kazakistan 2
LT - Lituania 2
LV - Lettonia 2
NP - Nepal 2
OM - Oman 2
PR - Porto Rico 2
SI - Slovenia 2
TT - Trinidad e Tobago 2
TW - Taiwan 2
UG - Uganda 2
AO - Angola 1
BB - Barbados 1
BF - Burkina Faso 1
BS - Bahamas 1
BW - Botswana 1
BY - Bielorussia 1
DO - Repubblica Dominicana 1
EE - Estonia 1
ET - Etiopia 1
EU - Europa 1
GE - Georgia 1
Totale 20.039
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Città #
Santa Clara 1.785
Warsaw 1.753
Ashburn 800
Fairfield 684
Singapore 664
Hong Kong 473
Dublin 441
San Jose 420
Chandler 408
Seoul 338
Milan 316
Woodbridge 299
Cambridge 297
Seattle 280
Houston 262
Wilmington 238
Council Bluffs 205
Altamura 193
Lawrence 192
Beijing 187
Jacksonville 157
Hefei 144
Los Angeles 143
The Dalles 130
Ho Chi Minh City 128
Princeton 127
Rome 123
Lauterbourg 116
Paris 110
Boston 104
Florence 98
Hanoi 87
Boardman 86
Phoenix 86
Buffalo 85
New York 81
Ann Arbor 71
Moscow 69
Helsinki 67
Mumbai 58
Melbourne 57
Dallas 55
San Diego 50
Medford 48
Tokyo 45
Izmir 42
São Paulo 42
Frankfurt am Main 40
Toronto 38
Naples 36
Chicago 35
Kent 35
Jakarta 29
Bologna 28
Dong Ket 28
Orem 28
Turin 28
Falls Church 27
Figino 27
Norwalk 27
Abidjan 26
Munich 26
Redondo Beach 24
Montreal 22
Brooklyn 21
Denver 20
Plant City 20
London 19
Miano 19
San Francisco 19
Shanghai 19
Palermo 18
Turku 18
Guangzhou 17
Brescia 15
Clifton 15
Atlanta 14
Abuja 13
Chennai 13
Da Nang 13
Langfang 13
Catania 12
Genoa 12
Bari 11
Johannesburg 11
Nuremberg 11
Rio de Janeiro 11
Amsterdam 10
Falkenstein 10
Hillsboro 10
Istanbul 10
Nairobi 10
Bengaluru 9
Dhaka 9
Manchester 9
North Bergen 9
San José 9
Shenzhen 9
Verona 9
Haiphong 8
Totale 13.623
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Nome #
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 453
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 339
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 336
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 320
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 303
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 295
Lack of transmission of TT virus through immunoglobulins 291
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 283
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 275
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 273
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 273
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 272
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 266
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 265
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 263
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 243
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 213
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 210
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 204
Timely follow-up of a GATA2 deficiency patient allows successful treatment 204
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 201
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 195
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 192
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 189
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 185
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 174
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 172
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association 171
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 171
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 168
Role of regulatory T cells and FOXP3 in human diseases 166
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 162
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 162
A case of antibody deficiency: CVID or XLA? 157
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 157
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 156
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 154
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome 152
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. 151
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation 150
Genetic disorders with immune dysregulation. 148
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 148
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 148
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 147
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 146
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 146
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 145
Novel molecular defects associated with very early-onset inflammatory bowel 145
VACCINAZIONI NEGLI ALLERGICI 144
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 144
Atypical Presentations of IPEX: Expect the Unexpected 143
IL-2 Signaling Axis Defects: How Many Faces? 142
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 140
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 139
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 139
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 139
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 139
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. 138
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 138
A case of recurrent lower respiratory infections 138
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 137
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 137
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 137
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 136
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 136
Common Presentations and Diagnostic Approaches 135
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 134
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 134
Extensive dental caries and periodontal disease in a child with GATA2 deficiency 133
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 133
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). 132
LE IPER-IGE 131
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 131
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development 130
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 129
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 129
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. 128
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 127
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 127
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 127
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation 126
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 125
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 125
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 124
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. 123
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 122
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 121
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 120
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 120
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study 117
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome 116
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 115
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 114
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 114
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 114
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 114
New frontiers in primary immunodeficiency disorders: immunology and beyond... 113
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report 111
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival 109
The evolution of cellular deficiency in GATA2 mutation. 109
Totale 16.817
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Categoria #
all - tutte 56.234
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 56.234
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022606 0 0 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
2025/20266.292 602 780 466 459 529 220 682 331 399 397 347 1.080
2026/20271.096 430 240 426 0 0 0 0 0 0 0 0 0
Totale 20.157