| Nome |
# |
|
Reappraisal of Antimalarials in Interferonopathies: New Perspectives for Old Drugs, file e2913fdb-e2ac-f688-e053-3705fe0a67e0
|
583
|
|
ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: A multicentre national study, file e2913fdf-2d33-f688-e053-3705fe0a67e0
|
384
|
|
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications, file e2913fdc-e99a-f688-e053-3705fe0a67e0
|
349
|
|
Mevalonate kinase deficiency: therapeutic targets, treatments, and outcomes, file e2913fdb-9c82-f688-e053-3705fe0a67e0
|
343
|
|
An Easy and Reliable Strategy for Making Type I Interferon Signature Analysis Comparable among Research Centers, file e2913fdc-d8e5-f688-e053-3705fe0a67e0
|
319
|
|
Patients' Induced Pluripotent Stem Cells to Model Drug Induced Adverse Events: A Role in Predicting Thiopurine Induced Pancreatitis?, file e2913fd9-efc1-f688-e053-3705fe0a67e0
|
313
|
|
Type i interferon-mediated autoinflammation due to DNase II deficiency, file e2913fdb-bccd-f688-e053-3705fe0a67e0
|
233
|
|
Genetics of inflammatory bowel disease from multifactorial to monogenic forms, file e2913fdd-3d11-f688-e053-3705fe0a67e0
|
214
|
|
Curcumin anti-apoptotic action in a model of intestinal epithelial inflammatory damage, file e2913fdb-9ff7-f688-e053-3705fe0a67e0
|
211
|
|
Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study, file e2913fd9-8536-f688-e053-3705fe0a67e0
|
206
|
|
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations, file cdf31d98-f5a3-405c-9036-193ca7d4cee8
|
202
|
|
Post-COVID-19 symptoms 6 months after acute infection among hospitalized and non-hospitalized patients, file e2913fdf-94ae-f688-e053-3705fe0a67e0
|
199
|
|
Combined Analysis of Methylation and Gene Expression Profiles in Separate Compartments of Small Bowel Mucosa Identified Celiac Disease Patients’ Signatures, file e2913fdc-6de7-f688-e053-3705fe0a67e0
|
195
|
|
Priming of the cgas‐sting‐tbk1 pathway enhances lps‐induced release of type i interferons, file e2913fdf-7171-f688-e053-3705fe0a67e0
|
191
|
|
Fever tree revisited: From malaria to autoinflammatory diseases, file e2913fda-153a-f688-e053-3705fe0a67e0
|
182
|
|
Is autophagy an elective strategy to protect neurons from dysregulated cholesterol metabolism?, file e2913fdc-bc3d-f688-e053-3705fe0a67e0
|
177
|
|
The complex interplay between lipids, immune system and interleukins in cardio-metabolic diseases, file e2913fdc-668a-f688-e053-3705fe0a67e0
|
176
|
|
To extinguish the fire from outside the cell or to shutdown the gas valve inside? Novel trends in anti-inflammatory therapies, file e2913fd9-addf-f688-e053-3705fe0a67e0
|
166
|
|
Neuronal Dysfunction Associated with Cholesterol Deregulation., file e2913fdc-322e-f688-e053-3705fe0a67e0
|
164
|
|
Monocyte-predominant engraftment, cytokine levels and early transplant-related complications in pediatric hematopoietic stem cell recipients, file e2913fdc-bc3c-f688-e053-3705fe0a67e0
|
149
|
|
Differential expression of GAS5 in rapamycin-induced reversion of glucocorticoid resistance, file e2913fda-82e3-f688-e053-3705fe0a67e0
|
147
|
|
The diagnostic challenge of very early-onset enterocolitis in an infant with XIAP deficiency, file e2913fd9-db2e-f688-e053-3705fe0a67e0
|
143
|
|
Ex vivo response to mucosal bacteria and muramyl dipeptide in inflammatory bowel disease, file e2913fda-d166-f688-e053-3705fe0a67e0
|
139
|
|
Repositioning drugs for rare immune diseases: Hopes and challenges for a precision medicine, file e2913fdf-311d-f688-e053-3705fe0a67e0
|
124
|
|
Innovative Target Therapies Are Able to Block the Inflammation Associated with Dysfunction of the Cholesterol Biosynthesis Pathway., file e2913fda-3925-f688-e053-3705fe0a67e0
|
119
|
|
Malattie rare a cavallo dell’innovazione: una sfida etica e scientifica, file e2913fdf-05e2-f688-e053-3705fe0a67e0
|
108
|
|
Genetic Variants Assessing Crohn’s Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey, file e2913fdf-a904-f688-e053-3705fe0a67e0
|
98
|
|
Altered pattern of tumor necrosis factor-Alpha production in peripheral blood monocytes from Crohn's disease basic study, file e2913fda-f0fe-f688-e053-3705fe0a67e0
|
97
|
|
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies, file e2913fde-2532-f688-e053-3705fe0a67e0
|
96
|
|
Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection, file e2913fdf-060e-f688-e053-3705fe0a67e0
|
95
|
|
IL-1 blockade with anakinra for severe inflammatory symptoms during chemotherapy for acute lymphoblastic leukemia, file 5b19195b-b0b6-4880-8a36-a70fb9f15480
|
93
|
|
Biological and clinical changes in a pediatric series treated with off-label jak inhibitors, file e2913fdd-cedc-f688-e053-3705fe0a67e0
|
92
|
|
Topical clobetasol: an overlooked cause of Cushing syndrome, file 394735f9-e80c-4cb5-aa9f-dcd90202393d
|
91
|
|
Failure of interferon-γ pre-treated mesenchymal stem cell treatment in a patient with crohn's disease, file e2913fd9-6ed7-f688-e053-3705fe0a67e0
|
88
|
|
Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency, file e2913fdf-2ba6-f688-e053-3705fe0a67e0
|
87
|
|
Palmar erythema: A diagnostic clue of juvenile dermatomyositis, file e2913fdf-7631-f688-e053-3705fe0a67e0
|
85
|
|
Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis, file e2913fda-838a-f688-e053-3705fe0a67e0
|
84
|
|
Long Noncoding RNA GAS5: A Novel Marker Involved in Glucocorticoid Response, file e2913fd9-7b4f-f688-e053-3705fe0a67e0
|
80
|
|
Diagnostic Approach to Monogenic Inflammatory Bowel Disease in Clinical Practice: A Ten-Year Multicentric Experience, file e2913fdf-0b9f-f688-e053-3705fe0a67e0
|
80
|
|
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype, file e2913fdf-861d-f688-e053-3705fe0a67e0
|
78
|
|
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma, file e2913fde-f41b-f688-e053-3705fe0a67e0
|
74
|
|
The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019), file e2913fdd-ad21-f688-e053-3705fe0a67e0
|
65
|
|
Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency, file e2913fde-3a37-f688-e053-3705fe0a67e0
|
61
|
|
Case Report: Use of Anakinra in Multisystem Inflammatory Syndrome During COVID-19 Pandemic, file e2913fde-59e7-f688-e053-3705fe0a67e0
|
60
|
|
Druggable monogenic immune defects hidden in diverse medical specialties: Focus on overlap syndromes, file bb1bebf0-092d-4db2-9808-5d9cd49ce50d
|
55
|
|
A Case of Uveitis in a Patient with Juvenile Myelomonocytic Leukemia Successfully Treated with Adalimumab, file e2913fdf-114d-f688-e053-3705fe0a67e0
|
55
|
|
Plasmacytoid Dendritic Cells Depletion and Elevation of IFN-γ Dependent Chemokines CXCL9 and CXCL10 in Children With Multisystem Inflammatory Syndrome, file e2913fde-6325-f688-e053-3705fe0a67e0
|
53
|
|
Acute rheumatic fever prophylaxis in high-income countries: clinical observations from an Italian multicentre, retrospective study, file e2913fdf-a72a-f688-e053-3705fe0a67e0
|
50
|
|
Dealing with Chronic Non-Bacterial Osteomyelitis: A practical approach, file e2913fdb-f3cc-f688-e053-3705fe0a67e0
|
48
|
|
Neither hereditary periodic fever nor periodic fever, aphthae, pharingitis, adenitis: Undifferentiated periodic fever in a tertiary pediatric center, file e2913fdc-1050-f688-e053-3705fe0a67e0
|
44
|
|
Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization, file e2913fde-efab-f688-e053-3705fe0a67e0
|
39
|
|
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity, file ab12961d-0f9e-481c-a502-defbfbd079d6
|
38
|
|
Recent insight into SARS-COV2 immunopathology and rationale for potential treatment and preventive strategies in COVID-19, file e2913fdd-94af-f688-e053-3705fe0a67e0
|
35
|
|
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations, file e2913fde-3202-f688-e053-3705fe0a67e0
|
35
|
|
Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up, file e2913fdf-5f27-f688-e053-3705fe0a67e0
|
33
|
|
A Novel ELISA-Based Peptide Biosensor Assay for Screening ABL1 Activity in vitro: A Challenge for Precision Therapy in BCR-ABL1 and BCR-ABL1 Like Leukemias, file e2913fde-eb83-f688-e053-3705fe0a67e0
|
31
|
|
Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results., file e2913fd9-aec6-f688-e053-3705fe0a67e0
|
29
|
|
Plasmacytoid Dendritic Cells Depletion and Elevation of IFN-γ Dependent Chemokines CXCL9 and CXCL10 in Children With Multisystem Inflammatory Syndrome, file e2913fde-8298-f688-e053-3705fe0a67e0
|
28
|
|
Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi–Goutières syndrome patients carrying RNASEH2 mutations, file e2913fde-2a94-f688-e053-3705fe0a67e0
|
27
|
|
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies, file e2913fde-be92-f688-e053-3705fe0a67e0
|
25
|
|
Use of the Auto-inflammatory Disease Activity Index to monitor disease activity in patients with colchicine-resistant Familial Mediterranean Fever, Mevalonate Kinase Deficiency, and TRAPS treated with canakinumab, file 386bdadb-3087-4d66-9dc4-bed81864871b
|
24
|
|
Clinical, immunological, and molecular features of typical and atypical severe combined immunodeficiency: Report of the italian primary immunodeficiency network, file e2913fdd-13e6-f688-e053-3705fe0a67e0
|
23
|
|
Pulmonary arterial hypertension in interferonophaties: a case report and a review of the literature, file e2913fdc-f7e2-f688-e053-3705fe0a67e0
|
22
|
|
Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus, file e2913fdd-a29e-f688-e053-3705fe0a67e0
|
22
|
|
Cytofluorimetric assay to investigate variability in blinatumomab in vitro response, file e2913fdf-9f50-f688-e053-3705fe0a67e0
|
22
|
|
SARS-CoV-2 Infection and Inflammatory Response in a Twin Pregnancy, file e2913fde-7d9f-f688-e053-3705fe0a67e0
|
20
|
|
A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children., file e2913fdd-1bd9-f688-e053-3705fe0a67e0
|
18
|
|
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme, file e2913fdf-5d20-f688-e053-3705fe0a67e0
|
18
|
|
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO), file e2913fdd-5fb0-f688-e053-3705fe0a67e0
|
17
|
|
Swollen Ankle with a Hole: Brodie Abscess, file 6a78f062-9fb8-46e4-a79a-48421695c718
|
16
|
|
A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: Diagnosis improvement and interpretation of complex clinical phenotypes, file e2913fdd-438c-f688-e053-3705fe0a67e0
|
16
|
|
Vasculitis, Autoimmunity, and Cytokines: How the Immune System Can Harm the Brain, file 26208464-27a0-40f5-901e-a56fdc463226
|
15
|
|
Hematopoietic Stem Cell Transplantation in Late‐onset X‐linked Chronic Granulomatous Disease in a Female Carrier, file 9697159c-f305-41b0-b2be-e65e3569f1f1
|
15
|
|
Severe onset of inflammatory myositis in a child: think to paraneoplastic myositis, file e2913fdf-8851-f688-e053-3705fe0a67e0
|
15
|
|
Cutaneous manifestations in mevalonate kinase deficient patients treated with canakinumab, file e2913fdf-a72b-f688-e053-3705fe0a67e0
|
14
|
|
Evolution of SARS-CoV-2 IgG Seroprevalence in Children and Factors Associated with Seroconversion: Results from a Multiple Time-Points Study in Friuli-Venezia Giulia Region, Italy, file e2913fdf-a872-f688-e053-3705fe0a67e0
|
14
|
|
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation, file e2913fde-6949-f688-e053-3705fe0a67e0
|
13
|
|
Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity, file 4c594cd9-e403-4573-b70f-b72b27e1c4d8
|
12
|
|
Long Noncoding RNA GAS5: A Novel Marker Involved in Glucocorticoid Response, file e2913fd9-2b24-f688-e053-3705fe0a67e0
|
12
|
|
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation., file e2913fdd-1bdb-f688-e053-3705fe0a67e0
|
12
|
|
Role of the Long Non-Coding RNA Growth Arrest-Specific 5 in Glucocorticoid Response in Children with Inflammatory Bowel Disease, file e2913fde-d5b4-f688-e053-3705fe0a67e0
|
12
|
|
In vitro effects of sulforaphane on interferon-driven inflammation and exploratory evaluation in two healthy volunteers, file e2913fde-ae77-f688-e053-3705fe0a67e0
|
11
|
|
Cytofluorimetric assay to investigate variability in blinatumomab in vitro response, file e2913fdf-6aec-f688-e053-3705fe0a67e0
|
11
|
|
A toddler with an unusually severe polyarticular arthritis and a lung involvement: a case report, file d09159dd-f392-475c-939a-a17d4d8244b3
|
10
|
|
Shared Pathogenetic Features Between Common Variable Immunodeficiency and Sjögren’s Syndrome: Clues for a Personalized Medicine, file e2913fdf-7177-f688-e053-3705fe0a67e0
|
10
|
|
Ultrasonographic Assessment for Tenosynovitis in Juvenile Idiopathic Arthritis with Ankle Involvement: Diagnostic and Therapeutic Significance, file 2f68b862-bab7-4f56-9f4a-0bddd4d9589c
|
9
|
|
Complex regional pain syndrome of the foot in a girl with post-SARS-CoV-2 chilblains, file a2a9ca2c-77ac-42d5-a753-66f76bbe5ff3
|
9
|
|
Hematopoietic Stem Cell Transplantation in Late‐onset X‐linked Chronic Granulomatous Disease in a Female Carrier, file 9cdd3a43-f3e5-4578-aa47-659698be1bbd
|
8
|
|
High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO), file e2913fdd-8fb5-f688-e053-3705fe0a67e0
|
8
|
|
Acute rheumatic fever prophylaxis in high-income countries: clinical observations from an Italian multicentre, retrospective study, file e2913fdd-bdfb-f688-e053-3705fe0a67e0
|
7
|
|
From bone to skin, file e2913fde-0bd7-f688-e053-3705fe0a67e0
|
7
|
|
Mevalonate kinase deficiency and squalene synthase inhibitor (TAK-475): The balance to extinguish the inflammation, file e2913fdf-60da-f688-e053-3705fe0a67e0
|
7
|
|
Mevalonate kinase deficiency and squalene synthase inhibitor (TAK-475): The balance to extinguish the inflammation, file e2913fdf-b204-f688-e053-3705fe0a67e0
|
7
|
|
Carbamazepine-induced thrombocytopenic purpura in a child: Insights from a genomic analysis, file e2913fda-86eb-f688-e053-3705fe0a67e0
|
6
|
|
Putative modifier genes in mevalonate kinase deficiency, file e2913fdb-341d-f688-e053-3705fe0a67e0
|
6
|
|
Elevated creatine kinase is mainly harmless in children but persistent and severe hyperCKaemia should raise suspicions of serious muscle damage, file f7acd3f5-e60f-4c99-909b-f61d61ea8afb
|
6
|
|
Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study, file 03cc9f15-7aa4-438a-8d1e-30a6d913e9e8
|
5
|
|
Subcutaneous tocilizumab in the management of non-infectious uveitis in children: a brief report, file 0fa973ce-4f95-4342-a055-8c83a3ccdacd
|
5
|
|
Role of the Long Non-Coding RNA Growth Arrest-Specific 5 in Glucocorticoid Response in Children with Inflammatory Bowel Disease, file e2913fdb-c79f-f688-e053-3705fe0a67e0
|
5
|
|
Diagnostic approach to monogenic inflammatory bowel disease in clinical practice: a 10-year multi-centric experience, file e2913fdd-05d6-f688-e053-3705fe0a67e0
|
5
|
| Totale |
8.359 |