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Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals.
- Published in:
- Journal of the Endocrine Society, 2023, v. 7, n. 9, p. 1, doi. 10.1210/jendso/bvad103
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- Publication type:
- Article
Remission of eczema and recovery of Th1 polarization following treatment with Dupilumab in STAT3 hyper IgE syndrome.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 4, p. 1, doi. 10.1111/pai.13770
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- Publication type:
- Article
Primary atopic disorders and chronic skin disease.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, p. 65, doi. 10.1111/pai.13633
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- Publication type:
- Article
Activated phosphoinositide 3‐dinase delta syndrome (APDS): An update.
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- Pediatric Allergy & Immunology, 2022, v. 33, p. 69, doi. 10.1111/pai.13634
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- Publication type:
- Article
Inherited defects in the complement system.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, p. 73, doi. 10.1111/pai.13635
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- Publication type:
- Article
Inherited defects in the complement system.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, p. 73, doi. 10.1111/pai.13635
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- Publication type:
- Article
Primary atopic disorders and chronic skin disease.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, p. 65, doi. 10.1111/pai.13633
- By:
- Publication type:
- Article
Activated phosphoinositide 3‐dinase delta syndrome (APDS): An update.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, p. 69, doi. 10.1111/pai.13634
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- Publication type:
- Article
Progression of non‐hematologic manifestations in SAMD9L‐associated autoinflammatory disease (SAAD) after hematopoietic stem cell transplantation.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13711
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- Publication type:
- Article
Immunological basis of virus‐host interaction in COVID‐19.
- Published in:
- Pediatric Allergy & Immunology, 2020, v. 31, p. 75, doi. 10.1111/pai.13363
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- Publication type:
- Article
Novel heterozygous TREX1 mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1288675
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- Publication type:
- Article
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01660-6
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- Publication type:
- Article
Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01649-7
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- Publication type:
- Article
Hematopoietic Stem Cell Transplantation in ARPC1B Deficiency.
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- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1535, doi. 10.1007/s10875-022-01305-6
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- Publication type:
- Article
Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
- Published in:
- Nature, 2015, v. 519, n. 7543, p. 378, doi. 10.1038/nature14271
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- Publication type:
- Article
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.
- Published in:
- Nature, 2015, v. 517, n. 7532, p. 89, doi. 10.1038/nature13801
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- Publication type:
- Article
Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report.
- Published in:
- 2018
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- Publication type:
- Case Study
Type I interferonopathies in pediatric rheumatology.
- Published in:
- Pediatric Rheumatology, 2016, v. 14, p. 1, doi. 10.1186/s12969-016-0094-4
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- Publication type:
- Article
A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot.
- Published in:
- Molecules, 2021, v. 26, n. 18, p. 5707, doi. 10.3390/molecules26185707
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- Publication type:
- Article
Vasculitis and vasculopathy associated with inborn errors of immunity: an overview.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1258301
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- Publication type:
- Article
Neutrophil Extracellular Traps-DNase Balance and Autoimmunity.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 10, p. 2667, doi. 10.3390/cells10102667
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- Publication type:
- Article
Deficiency in coatomer complex I causes aberrant activation of STING signalling.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-29946-6
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- Publication type:
- Article
Allele-specific regulation of primary cilia function by the von Hippel–Lindau tumor suppressor.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 1, p. 73, doi. 10.1038/sj.ejhg.5201930
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- Publication type:
- Article
Performance of the EULAR/ACR 2019 classification criteria for systemic lupus erythematous in monogenic lupus.
- Published in:
- Clinical Rheumatology, 2022, v. 41, n. 9, p. 2721, doi. 10.1007/s10067-022-06209-9
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- Publication type:
- Article
Dysregulation in B‐cell responses and T follicular helper cell function in ADA2 deficiency patients.
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- European Journal of Immunology, 2021, v. 51, n. 1, p. 206, doi. 10.1002/eji.202048549
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- Publication type:
- Article
Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
- Published in:
- Genes, 2022, v. 13, n. 7, p. 1179, doi. 10.3390/genes13071179
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- Publication type:
- Article
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1299, doi. 10.3390/genes12091299
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- Publication type:
- Article
Recent Insight into SARS-CoV2 Immunopathology and Rationale for Potential Treatment and Preventive Strategies in COVID-19.
- Published in:
- Vaccines, 2020, v. 8, n. 2, p. 224, doi. 10.3390/vaccines8020224
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- Publication type:
- Article
Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.919237
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- Publication type:
- Article
Adenosine Deaminase 2 Deficiency (DADA2): A Crosstalk Between Innate and Adaptive Immunity.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.935957
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- Publication type:
- Article
Proteomic Signatures of Monocytes in Hereditary Recurrent Fevers.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. N.PAG, doi. 10.3389/fimmu.2022.921253
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- Publication type:
- Article
Case Report: Multisystem inflammatory syndrome in children with associated proximal tubular injury.
- Published in:
- Frontiers in Nephrology, 2024, p. 01, doi. 10.3389/fneph.2023.1194989
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- Publication type:
- Article
Case Report: Multisystem inflammatory syndrome in children with associated proximal tubular injury.
- Published in:
- Frontiers in Nephrology, 2023, v. 3, p. 1, doi. 10.3389/fneph.2023.1194989
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- Publication type:
- Article
Outcomes After SARS-CoV-2 Vaccination Among Children With a History of Multisystem Inflammatory Syndrome.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 3, p. e224750, doi. 10.1001/jamanetworkopen.2022.4750
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- Publication type:
- Article
Syndrome of Undifferentiated Recurrent Fever (SURF): An Emerging Group of Autoinflammatory Recurrent Fevers.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 9, p. 1963, doi. 10.3390/jcm10091963
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- Publication type:
- Article
Therapeutic Role of HPV Vaccination on Benign HPV-induced Epithelial Proliferations in Immunocompetent and Immunocompromised Patients: Case Study and Review of the Literature.
- Published in:
- Open Forum Infectious Diseases, 2024, v. 11, n. 7, p. 1, doi. 10.1093/ofid/ofae369
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- Publication type:
- Article
Spontaneous pregnancy after hematopoietic stem cell transplantation for chronic granulomatous disease.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 4, p. 1, doi. 10.1002/pbc.28783
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- Publication type:
- Article
Actin Remodeling Defects Leading to Autoinflammation and Immune Dysregulation.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.604206
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- Publication type:
- Article
challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
- Published in:
- Rheumatology, 2022, v. 61, n. 2, p. 696, doi. 10.1093/rheumatology/keab361
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- Publication type:
- Article
Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
- Published in:
- Rheumatology, 2021, v. 60, n. 10, p. 4850, doi. 10.1093/rheumatology/keaa912
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- Publication type:
- Article
Corrigendum to: Haploidentical α/β T-cell and B-cell depleted stem cell transplantation in severe mevalonate kinase deficiency.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.
- Published in:
- Rheumatology, 2020, v. 59, n. 2, p. 344, doi. 10.1093/rheumatology/kez270
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- Publication type:
- Article
Pseudomonas aeruginosa severe skin infection in a toddler with X-linked agammaglobulinemia due to a novel BTK mutation.
- Published in:
- Infezioni in Medicina, 2019, v. 27, n. 1, p. 73
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- Publication type:
- Article
Powering the immune system: mitochondria in immune function and deficiency.
- Published in:
- 2014
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- Publication type:
- journal article
Powering the Immune System: Mitochondria in Immune Function and Deficiency.
- Published in:
- Journal of Immunology Research, 2014, p. 1, doi. 10.1155/2014/164309
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- Publication type:
- Article
Bone Marrow-Derived Mesenchymal Stem Cells Induce Both Polyclonal Expansion and Differentiation of B Cells Isolated from Healthy Donors and Systemic Lupus Erythematosus Patients.
- Published in:
- Stem Cells, 2008, v. 26, n. 2, p. 562, doi. 10.1634/stemcells.2007-0528
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- Publication type:
- Article
Proposta di un algoritmo diagnostico per il deficit di Adenosina Deaminasi-2 (DADA2).
- Published in:
- Biochimica Clinica, 2024, v. 48, n. 1, p. 62, doi. 10.19186/BC_2024.004
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- Publication type:
- Article
Expert Perspective: Diagnostic Approach to the Autoinflammatory Diseases.
- Published in:
- Arthritis & Rheumatology, 2024, v. 76, n. 2, p. 166, doi. 10.1002/art.42690
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- Publication type:
- Article
On the Alert for Cytokine Storm: Immunopathology in COVID‐19.
- Published in:
- Arthritis & Rheumatology, 2020, v. 72, n. 7, p. 1059, doi. 10.1002/art.41285
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- Publication type:
- Article