GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 8.420
EU - Europa 6.378
AS - Asia 3.645
SA - Sud America 587
AF - Africa 115
OC - Oceania 68
Continente sconosciuto - Info sul continente non disponibili 2
Totale 19.215
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Nazione #
US - Stati Uniti d'America 8.284
PL - Polonia 1.758
RU - Federazione Russa 1.485
IT - Italia 1.427
SG - Singapore 935
CN - Cina 776
HK - Hong Kong 575
BR - Brasile 463
IE - Irlanda 445
VN - Vietnam 426
KR - Corea 344
SE - Svezia 303
FR - Francia 251
FI - Finlandia 192
BD - Bangladesh 179
DE - Germania 168
IN - India 112
UA - Ucraina 112
GB - Regno Unito 110
CA - Canada 78
TR - Turchia 65
AU - Australia 64
AR - Argentina 54
NL - Olanda 50
JP - Giappone 48
ID - Indonesia 45
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
EC - Ecuador 12
PK - Pakistan 12
AT - Austria 10
CR - Costa Rica 10
KE - Kenya 10
SA - Arabia Saudita 10
CH - Svizzera 9
JM - Giamaica 9
UZ - Uzbekistan 9
VE - Venezuela 9
AE - Emirati Arabi Uniti 8
DZ - Algeria 8
PE - Perù 8
GR - Grecia 7
PH - Filippine 7
TN - Tunisia 7
CZ - Repubblica Ceca 6
IL - Israele 6
MA - Marocco 6
PY - Paraguay 6
EG - Egitto 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
HN - Honduras 3
NO - Norvegia 3
NZ - Nuova Zelanda 3
AM - Armenia 2
BH - Bahrain 2
BJ - Benin 2
BO - Bolivia 2
CY - Cipro 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
TT - Trinidad e Tobago 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
Totale 19.204
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Città #
Santa Clara 1.765
Warsaw 1.753
Ashburn 771
Fairfield 684
Singapore 661
Hong Kong 472
Dublin 441
Chandler 408
Seoul 338
Milan 300
Woodbridge 299
Cambridge 297
Seattle 280
Houston 261
San Jose 254
Wilmington 238
Altamura 193
Lawrence 192
Beijing 187
Jacksonville 157
Hefei 144
Los Angeles 137
The Dalles 130
Ho Chi Minh City 128
Princeton 127
Lauterbourg 116
Rome 116
Paris 110
Boston 104
Florence 93
Council Bluffs 88
Hanoi 87
Boardman 86
Buffalo 83
New York 77
Ann Arbor 70
Moscow 69
Helsinki 67
Mumbai 58
Melbourne 57
Dallas 51
San Diego 50
Medford 48
Tokyo 45
Izmir 42
São Paulo 42
Frankfurt am Main 39
Kent 35
Naples 35
Jakarta 29
Dong Ket 28
Orem 28
Phoenix 28
Bologna 27
Falls Church 27
Norwalk 27
Abidjan 26
Chicago 26
Munich 26
Turin 26
Redondo Beach 24
Toronto 24
Montreal 21
Brooklyn 20
Figino 20
Denver 19
Miano 19
Shanghai 19
London 18
Palermo 18
Turku 18
Guangzhou 17
San Francisco 17
Clifton 15
Abuja 13
Atlanta 13
Chennai 13
Da Nang 13
Langfang 13
Brescia 12
Catania 12
Bari 11
Johannesburg 11
Nuremberg 11
Rio de Janeiro 11
Amsterdam 10
Falkenstein 10
Genoa 10
Hillsboro 10
Nairobi 10
Bengaluru 9
Istanbul 9
Manchester 9
Shenzhen 9
Verona 9
Dhaka 8
Haiphong 8
Lappeenranta 8
Salerno 8
Tampa 8
Totale 13.120
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Nome #
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 444
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 329
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 329
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 316
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 296
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 292
Lack of transmission of TT virus through immunoglobulins 282
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 279
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 271
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 268
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 268
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 266
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 260
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 256
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 253
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 235
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 208
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 207
Timely follow-up of a GATA2 deficiency patient allows successful treatment 199
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 198
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 195
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 191
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 188
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 179
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 168
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 168
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association 164
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 164
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 162
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 162
Role of regulatory T cells and FOXP3 in human diseases 161
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 157
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 157
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 151
A case of antibody deficiency: CVID or XLA? 150
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 149
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 148
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome 145
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 145
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 145
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 145
Growth Failure in STAT3 Gain-of-Function Syndrome Persists After Hematopoietic Stem Cell Transplantation 144
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. 144
Genetic disorders with immune dysregulation. 144
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 144
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 143
Novel molecular defects associated with very early-onset inflammatory bowel 142
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 140
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 140
Atypical Presentations of IPEX: Expect the Unexpected 139
VACCINAZIONI NEGLI ALLERGICI 138
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 138
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 137
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 137
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 137
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 136
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 136
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. 135
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 135
IL-2 Signaling Axis Defects: How Many Faces? 135
Common Presentations and Diagnostic Approaches 134
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 134
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 133
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 132
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 132
A case of recurrent lower respiratory infections 132
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 130
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 129
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 129
LE IPER-IGE 128
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). 128
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 127
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development 127
Extensive dental caries and periodontal disease in a child with GATA2 deficiency 126
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 126
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 125
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 125
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. 124
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 123
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 123
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 122
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 121
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 121
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation 120
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 120
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. 118
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 118
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 117
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 116
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome 112
New frontiers in primary immunodeficiency disorders: immunology and beyond... 110
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 110
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 110
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 109
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 109
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 108
The evolution of cellular deficiency in GATA2 mutation. 106
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report 102
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 102
Qualitative and Quantitative Regulatory T Cell Defects in Patients With IPEX and IPEX-Like Syndromes 101
Totale 16.313
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Categoria #
all - tutte 52.823
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 52.823
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20266.292 602 780 466 459 529 220 682 331 399 397 347 1.080
2026/2027255 255 0 0 0 0 0 0 0 0 0 0 0
Totale 19.316