GAMBINERI, ELEONORA
 Distribuzione geografica
Continente #
NA - Nord America 4.275
EU - Europa 3.271
AS - Asia 426
SA - Sud America 19
OC - Oceania 7
AF - Africa 6
Continente sconosciuto - Info sul continente non disponibili 1
Totale 8.005
Nazione #
US - Stati Uniti d'America 4.263
PL - Polonia 1.743
IE - Irlanda 436
IT - Italia 408
SE - Svezia 293
HK - Hong Kong 239
FI - Finlandia 101
UA - Ucraina 101
DE - Germania 71
CN - Cina 61
GB - Regno Unito 50
TR - Turchia 50
VN - Vietnam 38
RU - Federazione Russa 25
BR - Brasile 14
JO - Giordania 14
FR - Francia 11
CA - Canada 10
NL - Olanda 8
IN - India 7
CZ - Repubblica Ceca 6
ES - Italia 6
SG - Singapore 6
AU - Australia 5
SC - Seychelles 5
BE - Belgio 4
CH - Svizzera 4
KR - Corea 4
IR - Iran 3
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
EU - Europa 1
KH - Cambogia 1
LV - Lettonia 1
MU - Mauritius 1
PH - Filippine 1
Totale 8.005
Città #
Warsaw 1.742
Fairfield 684
Dublin 433
Chandler 408
Ashburn 310
Woodbridge 299
Cambridge 297
Seattle 270
Houston 247
Wilmington 236
Altamura 193
Lawrence 192
Jacksonville 155
Hong Kong 146
Princeton 127
Boston 93
Boardman 80
Ann Arbor 70
San Diego 50
Medford 48
Florence 46
Izmir 42
Beijing 34
Dong Ket 28
Falls Church 27
Norwalk 27
Milan 20
Kent 19
Moscow 14
New York 14
Langfang 13
Phoenix 13
Hillsboro 10
Rome 10
Los Angeles 9
Salerno 8
Toronto 8
Buffalo 7
Andover 6
Barcelona 6
London 6
Mountain View 6
Paris 6
Saint Petersburg 6
Shanghai 6
Singapore 5
Aosta 4
Bern 4
Catania 4
Verona 4
Como 3
Frankfurt Am Main 3
Gent 3
Guangzhou 3
Peschiera 3
Redwood City 3
Seoul 3
Trento 3
Turin 3
Utrecht 3
Alvorada 2
Anguillara Sabazia 2
Bengaluru 2
Brescia 2
Castellammare di Stabia 2
Collecorvino 2
Copparo 2
Cuauhtémoc 2
Duncan 2
Gela 2
Genoa 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
Vaiano 2
Zhengzhou 2
Alexandria 1
Anzola dell'Emilia 1
Asahicho 1
Atlanta 1
Auckland 1
Badlapur 1
Bognor Regis 1
Bremen 1
Busto Arsizio 1
Cagayan de Oro 1
Camparada 1
Carrigtohill 1
Castelliri 1
Centrale 1
Chiswick 1
Coconut Creek 1
Totale 6.586
Nome #
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome 242
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome 227
CACP syndrome: identification of five novel mutations and of the first case of UPD in the largest European cohort 213
Lack of transmission of TT virus through immunoglobulins 208
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome 208
Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome. 207
Gut immune reconstitution in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome after hematopoietic stem cell transplantation 203
Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome. 201
Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea 198
Patient-centred screening for primary immunodeficiency, a multi-stage diagnostic protocol designed for non-immunologists: 2011 update. 191
Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood? 186
Functional type 1 regulatory T cells develop regardless of FOXP3 mutations inpatients with IPEX syndrome. 173
Multisystem autoimmune disease caused by increased STAT3 phosphorylation and dysregulated gene expression 165
CD25 deficiency: A new conformational mutation prevents the receptor expression on cell surface 163
Bone density and metabolism in subjects with microdeletion of chromosome 22q11 (del22q11) 110
Timely follow-up of a GATA2 deficiency patient allows successful treatment 105
Role of regulatory T cells and FOXP3 in human diseases 101
Thyroid function and morphology in subjects with microdeletion of chromosome 22q11 (del(22)(q11)). 101
Patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome 99
A silent FOXP3 mutation (c.543C > T, S181S) possibly responsible of atypical IPEX phenotype 90
Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study 90
Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene 89
A NEW CASE OF IPEX RECEIVING BONE MARROW TRANSPLANTATION. 88
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. 86
IMMUNODEFICIENCIES WITH AUTOIMMUNE CONSEQUENCES 84
Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations. 83
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019) 82
Su.101. New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 80
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 77
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). 77
IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity 75
Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome. 75
Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome 75
Allogeneic Hematopoietic Stem Cell Transplantation for Congenital Immune Dysregulatory Disorders 74
The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies. 74
Sa.97. A Unique Mutation in an Upstream Region of the FOXP3 Gene Causes IPEX by Aberrant mRNA Splicing and Lack of FOXP3+ Treg 74
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. 71
Hereditary deficiency of gp91(phox) is associated with enhanced arterial dilatation: results of a multicenter study. 69
OR.40. Foxp3 Mutations in Children: Different Degrees of Impairment in Regulatory and Effector T-Cell Functions in Patients with Distinct Genotypes and Phenotypes 69
Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature. 68
Genetic disorders with immune dysregulation. 67
Common Presentations and Diagnostic Approaches 67
Exploring ‘IPEX-like Syndrome’: What is Beyond FOXP3 Gene? 66
Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity 66
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. 65
Defective regulatory and effector T cell functions in patients with FOXP3 mutations. 65
Safety and immunogenicity of measles-mumps-rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome). 65
Novel molecular defects associated with very early-onset inflammatory bowel 65
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies 64
New frontiers in primary immunodeficiency disorders: immunology and beyond... 62
ICON: The Early Diagnosis of Congenital Immunodeficiencies. 62
Does NADPH Oxidase Deficiency Cause Artery Dilatation in Humans? 62
Higher risk of hepatitis C virus perinatal transmission from drug user mothers is mediated by peripheral blood mononuclear cell infection 60
F.80. A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype 59
Novel Mutations of Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome 58
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells 58
Langerhans cell histiocytosis in IPEX syndrome: Possible role for natural regulatory T cells? 58
Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome 54
The evolution of cellular deficiency in GATA2 mutation. 53
IPEX e APECED: due esempi di come immunodeficienza e autoimmunità possono coesistere 52
Th17 transcription factor RORC2 is inversely correlated with FOXP3 expression in the joints of children with juvenile idiopathic arthritis. 50
Case Report: Signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: A Life-Threatening Case of Severe Hemolytic Anemia 49
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations 48
A case of antibody deficiency: CVID or XLA? 48
A case of isolated CD4+ T cell deficiency and recurrent parotitis. 48
Low IgE is insufficiently sensitive to guide genetic testing of STAT3 gain-of-function mutations 48
VACCINAZIONI NEGLI ALLERGICI 47
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 47
THE MOLECULAR BASIS OF PRIMARY IMMUNE DEFICIENCY DISEASES 46
AN ATYPICAL CASE OF IPEX SINDROME WITH MULTIPLE FOXP3 MUTATIONS 46
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. 46
Other Well-Defined Immunodeficiency Syndromes: IPEX-SYNDROME 44
DEFECTIVE REGULATORY AND EFFECTOR T CELL FUNCTION IN PATIENT WITH FOXP3 MUTATIONS 44
IMMUNE DYSREGULATION, POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED INHERITANCE (IPEX) 43
LE IPER-IGE 42
Chronic granulomatous disease in two adolescent males: uncommon mild presentation 41
INDUCIBLE CO-STIMULATOR MOLECULE (ICOS), A CANDIDATE GENE FOR DETECTIVE ISOTOPE SWITCHING, IS NORMAL IN PATIENTS WITH HYPER IGM SINDROME OF UNKNOWN MOLECULAR DIAGNOSIS. 41
A case of recurrent lower respiratory infections 39
IPEX-Like Syndrome: A Quantitative Defect of Regulatory T Cells Detected by Demethylation Analysis of the FOXP3 Locus 36
RECENTI ACQUISIZIONI SULLA IMMUNO-PATOGENESI DELL' ASMA 35
Case Report: A Novel Pathogenic Missense Mutation in FAS: A Multi-Generational Case Series of Autoimmune Lymphoproliferative Syndrome 35
The Spectrum of FOXP3 Gene Mutations and Clinical Features in IPEX Syndrome 34
Looking for Other Genetic Disorders to Be Included Among the "Cohesinopathies" 34
DIFFERENT DEGREE OF IMPAIRMENT IN REGULATORY AND EFFECTOR T-CELL FUNCTIONS IN PATIENTS WITH DISTINCT GENOTYPE AND PHENOTYPE 33
A patient affected by SCN with long term CSF3R acquired mutation and no progression in MDS/AML 32
TIMELY FOLLOW-UP OF A GATA2 DEFICIENCY PATIENT AS PREDICTOR OF SUCCESSFUL TREATMENT 32
Identification of important functional domains of FOXP3 by analysis of mutations present in patients with IPEX syndrome. 32
Autoimmune Cytopenias and Dysregulated Immunophenotype Act as Warning Signs of Inborn Errors of Immunity: Results From a Prospective Study 32
Single Centre experience of Hematopoeitic Stem Cell Transplantation for IPEX Syndrome . 31
Proteomics plus genomics approaches in primary immunodeficiency: the caseof immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)syndrome. 31
Split chimerism may be sufficient for control of immune defects in the presence of CD3+donor cells 31
Atypical Presentations of IPEX: Expect the Unexpected 31
Clinical, laboratory and molecular analysis of 30 patients with the phenotype of IPEX syndrome. 30
Different methods to analyze CD4+CD25+FOXP3+T regulatory cells 30
Qualitative and Quantitative Regulatory T Cell Defects in Patients With IPEX and IPEX-Like Syndromes 30
ALPS, FAS, and beyond: from inborn errors of immunity to acquired immunodeficiencies 30
Foxp3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: Relationship with II-17 at cytokine and molecular level 29
CD4+CD25+Foxp3+T regulatory cells expression in peripheral blood can not be induced by oral desensitisation 29
Is the experience mutation of G-CSF truly a predictive indicator of trends in early myolodysplasia or leukemia? 28
IL-2 Signaling Axis Defects: How Many Faces? 27
Totale 7.688
Categoria #
all - tutte 23.661
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 23.661


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2018/2019530 0 0 0 0 0 0 0 0 0 0 303 227
2019/20201.803 156 182 57 138 213 210 178 223 175 100 144 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
2023/2024610 41 71 118 33 42 45 23 166 9 29 33 0
Totale 8.084