GAMBINERI, ELEONORA
 Distribuzione geografica
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Continente #
NA - Nord America 5.702
EU - Europa 4.324
AS - Asia 733
AF - Africa 33
SA - Sud America 19
OC - Oceania 7
Continente sconosciuto - Info sul continente non disponibili 1
Totale 10.819
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Nazione #
US - Stati Uniti d'America 5.688
PL - Polonia 1.743
RU - Federazione Russa 1.032
IT - Italia 437
IE - Irlanda 436
SE - Svezia 293
HK - Hong Kong 241
SG - Singapore 231
FI - Finlandia 102
UA - Ucraina 101
CN - Cina 86
DE - Germania 77
IN - India 58
GB - Regno Unito 51
TR - Turchia 51
VN - Vietnam 38
CI - Costa d'Avorio 26
BR - Brasile 14
JO - Giordania 14
NL - Olanda 12
FR - Francia 11
CA - Canada 10
ES - Italia 10
CZ - Repubblica Ceca 6
IR - Iran 6
AU - Australia 5
CH - Svizzera 5
SC - Seychelles 5
BE - Belgio 4
KR - Corea 4
CR - Costa Rica 2
GR - Grecia 2
JP - Giappone 2
MX - Messico 2
NZ - Nuova Zelanda 2
PE - Perù 2
VE - Venezuela 2
AR - Argentina 1
DK - Danimarca 1
EG - Egitto 1
EU - Europa 1
KH - Cambogia 1
LV - Lettonia 1
MU - Mauritius 1
PH - Filippine 1
Totale 10.819
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Città #
Warsaw 1.742
Santa Clara 1.142
Fairfield 684
Dublin 433
Chandler 408
Ashburn 312
Woodbridge 299
Cambridge 297
Seattle 270
Houston 247
Wilmington 236
Altamura 193
Lawrence 192
Singapore 176
Jacksonville 155
Hong Kong 146
Princeton 127
Boston 93
Boardman 81
Ann Arbor 70
Florence 52
Mumbai 50
San Diego 50
Medford 48
Izmir 42
Beijing 35
Moscow 32
Dong Ket 28
Falls Church 27
Norwalk 27
Abidjan 26
Milan 21
Los Angeles 20
Kent 19
New York 14
Shanghai 14
Langfang 13
Phoenix 13
Rome 11
Hillsboro 10
Salerno 8
Toronto 8
Buffalo 7
Guangzhou 7
London 7
Andover 6
Barcelona 6
Mountain View 6
Paris 6
Saint Petersburg 6
Catania 5
Aosta 4
Bern 4
Brescia 4
Naples 4
Verona 4
Viladecans 4
Yubileyny 4
Como 3
Frankfurt Am Main 3
Gent 3
Munich 3
Peschiera 3
Redwood City 3
San Francisco 3
Seoul 3
Trento 3
Turin 3
Utrecht 3
Alvorada 2
Anguillara Sabazia 2
Bari 2
Bengaluru 2
Castellammare di Stabia 2
Collecorvino 2
Copparo 2
Cuauhtémoc 2
Duncan 2
Gela 2
Genoa 2
Helsinki 2
Heredia 2
Leawood 2
Lima 2
Naaldwijk 2
New Bedfont 2
Palermo 2
Perth 2
Pune 2
Redmond 2
San Cristóbal 2
San Mateo 2
St Petersburg 2
Trieste 2
Vaiano 2
Zhengzhou 2
Alexandria 1
Ankara 1
Anzola dell'Emilia 1
Asahicho 1
Totale 8.046
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Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 264
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 252
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 244
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 232
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 230
Lack of transmission of TT virus through immunoglobulins 230
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 227
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 222
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 219
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 213
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 207
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 195
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 193
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 192
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 138
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 138
Timely follow-up of a GATA2 deficiency patient allows successful treatment 134
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 134
Role of regulatory T cells and FOXP3 in human diseases 122
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 120
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 116
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 114
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 112
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 111
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. 109
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 104
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 102
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 102
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 101
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 99
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 97
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 96
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 96
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 95
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). 95
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 95
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 95
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. 94
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 92
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 92
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 90
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 90
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 90
Novel molecular defects associated with very early-onset inflammatory bowel 90
Common Presentations and Diagnostic Approaches 89
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 89
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 88
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 87
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 87
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 87
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 86
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 86
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. 84
Genetic disorders with immune dysregulation. 84
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 83
New frontiers in primary immunodeficiency disorders: immunology and beyond... 82
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 82
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 80
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 79
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 79
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 78
VACCINAZIONI NEGLI ALLERGICI 75
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 75
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 75
A case of antibody deficiency: CVID or XLA? 74
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 74
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. 73
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 73
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 73
The evolution of cellular deficiency in GATA2 mutation. 72
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 72
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 69
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 69
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 67
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 67
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 66
Atypical Presentations of IPEX: Expect the Unexpected 66
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 65
A case of recurrent lower respiratory infections 64
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 64
LE IPER-IGE 63
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 63
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 63
IL-2 Signaling Axis Defects: How Many Faces? 61
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 58
IPEX-Like Syndrome: A Quantitative Defect of Regulatory T Cells Detected by Demethylation Analysis of the FOXP3 Locus 58
RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA 57
Planned hematopoietic stem cell transplantation in a 17-month-old patient with high-risk acute myeloid leukemia and persistent SARS-CoV-2 infection 57
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 56
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 56
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 56
The Spectrum of FOXP3 Gene Mutations and Clinical Features in IPEX Syndrome 54
DIFFERENT DEGREE OF IMPAIRMENT IN REGULATORY AND EFFECTOR T-CELL FUNCTIONS IN PATIENTS WITH DISTINCT GENOTYPE AND PHENOTYPE 54
Qualitative and Quantitative Regulatory T Cell Defects in Patients With IPEX and IPEX-Like Syndromes 54
Split chimerism may be sufficient for control of immune defects in the presence of CD3+donor cells 54
Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome. 54
Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome . 53
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 53
Proteomics plus genomics approaches in primary immunodeficiency: the caseof immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)syndrome. 53
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 53
Totale 10.176
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Categoria #
all - tutte 30.682
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 30.682
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.270 0 0 0 0 213 210 178 223 175 100 144 27
2020/20211.179 101 123 56 110 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
2024/20252.791 159 457 243 575 1.357 0 0 0 0 0 0 0
Totale 10.898