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A Potential Screening Tool for IPEX Syndrome.
- Published in:
- Pediatric & Developmental Pathology, 2007, v. 10, n. 2, p. 98, doi. 10.2350/06-07-0130.1
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- Publication type:
- Article
Astrovirus Encephalitis in Boy with X-linked Agammaglobulinemia.
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- Emerging Infectious Diseases, 2010, v. 16, n. 6, p. 918, doi. 10.3201/eid1606.091536
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- Publication type:
- Article
A comprehensive platform for analyzing longitudinal multi-omics data.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37432-w
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- Publication type:
- Article
Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease.
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- Arthritis Research & Therapy, 2017, v. 19, p. 1, doi. 10.1186/s13075-017-1443-5
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- Publication type:
- Article
Simultaneous trimodal single-cell measurement of transcripts, epitopes, and chromatin accessibility using TEA-seq.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.63632
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- Publication type:
- Article
The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1172
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- Publication type:
- Article
Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
- Published in:
- Pediatric Rheumatology, 2020, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12969-020-00474-1
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- Publication type:
- Article
Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.02411
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- Publication type:
- Article
Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00544
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- Publication type:
- Article
Dried Blood spots, an affordable Tool to collect, ship, and sequence gDna from Patients with an X-linked agammaglobulinemia Phenotype residing in a Developing country.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00289
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- Publication type:
- Article
Persistent serum protein signatures define an inflammatory subcategory of long COVID.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-38682-4
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- Publication type:
- Article
Vaccination With a UV-Irradiated Genetically Attenuated Mutant of Staphylococcus aureus Provides Protection Against Subsequent Systemic Infection.
- Published in:
- Journal of Infectious Diseases, 2012, v. 206, n. 11, p. 1734, doi. 10.1093/infdis/jis579
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- Publication type:
- Article
Regulatory T cells in human autoimmune diseases.
- Published in:
- Springer Seminars in Immunopathology, 2006, v. 28, n. 1, p. 63, doi. 10.1007/s00281-006-0041-4
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- Publication type:
- Article
FOXP3acts as a rheostat of the immune response.
- Published in:
- Immunological Reviews, 2005, v. 203, n. 1, p. 156, doi. 10.1111/j.0105-2896.2005.00231.x
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- Publication type:
- Article
Suppression by human FOXP3<sup>+</sup> regulatory T cells requires FOXP3-TIP60 interactions.
- Published in:
- Science Immunology, 2017, v. 2, n. 12, p. 1, doi. 10.1126/sciimmunol.aai9297
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- Publication type:
- Article
Gene editing to induce FOXP3 expression in human CD4<sup>+</sup> T cells leads to a stable regulatory phenotype and function.
- Published in:
- Science Translational Medicine, 2020, v. 12, n. 546, p. 1, doi. 10.1126/scitranslmed.aay6422
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- Publication type:
- Article
Correction to: Heme oxygenase-1 deficiency presenting with interstitial lung disease and hemophagocytic flares.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Somatic Genetic Reversion of a Duplication Event in IL2RG in Siblings.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1747, doi. 10.1007/s10875-023-01557-w
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- Publication type:
- Article
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
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- Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 151, doi. 10.1007/s10875-022-01358-7
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- Publication type:
- Article
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
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- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1508, doi. 10.1007/s10875-022-01352-z
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- Publication type:
- Article
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 7, p. 1473, doi. 10.1007/s10875-022-01289-3
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- Publication type:
- Article
Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3.
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- Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1164, doi. 10.1007/s10875-022-01292-8
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- Publication type:
- Article
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 3, p. 666, doi. 10.1007/s10875-021-00980-1
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- Publication type:
- Article
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 1, p. 66, doi. 10.1007/s10875-020-00758-x
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- Publication type:
- Article
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 1, p. 24, doi. 10.1007/s10875-019-00737-x
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- Publication type:
- Article
Use of Genetic Testing for Primary Immunodeficiency Patients.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 3, p. 320, doi. 10.1007/s10875-018-0489-8
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- Publication type:
- Article
The International Alliance of Primary Immune Deficiency Societies.
- Published in:
- 2018
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- Publication type:
- Editorial
Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
- Published in:
- Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 96, doi. 10.1007/s10875-017-0464-9
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- Publication type:
- Article
The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
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- Journal of Clinical Immunology, 2018, v. 38, n. 1, p. 129, doi. 10.1007/s10875-017-0465-8
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- Publication type:
- Article
Autoantibodies in Scurfy Mice and IPEX Patients Recognize Keratin 14.
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- Journal of Investigative Dermatology, 2010, v. 130, n. 5, p. 1391, doi. 10.1038/jid.2010.16
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- Publication type:
- Article
Genetic disorders with immune dysregulation.
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- Cellular & Molecular Life Sciences, 2012, v. 69, n. 1, p. 49, doi. 10.1007/s00018-011-0838-8
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- Publication type:
- Article
Primary immune regulatory disorders for the pediatric hematologist and oncologist: A case-based review.
- Published in:
- 2019
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- Publication type:
- journal article
Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.
- Published in:
- 2015
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- Publication type:
- journal article
Successful hematopoietic cell transplantation in a patient with X-linked agammaglobulinemia and acute myeloid leukemia.
- Published in:
- 2015
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- Publication type:
- journal article
Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.
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- 2016
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- Publication type:
- journal article
Health-related quality of life in patients with primary immunodeficiency disease.
- Published in:
- Allergy, Asthma & Clinical Immunology, 2015, v. 11, p. 1, doi. 10.1186/s13223-015-0092-y
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- Publication type:
- Article
Behçet disease (BD) and BD‐like clinical phenotypes: NF‐κB pathway in mucosal ulcerating diseases.
- Published in:
- Scandinavian Journal of Immunology, 2020, v. 92, n. 5, p. 1, doi. 10.1111/sji.12973
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- Publication type:
- Article
Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia.
- Published in:
- Pediatric Blood & Cancer, 2008, v. 51, n. 2, p. 293, doi. 10.1002/pbc.21573
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- Publication type:
- Article
A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.
- Published in:
- Human Mutation, 2010, v. 31, n. 9, p. 1080, doi. 10.1002/humu.21322
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- Publication type:
- Article
Abatacept increases T cell exhaustion in early RA individuals who carry HLA risk alleles.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1383110
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- Publication type:
- Article
MOCHA's advanced statistical modeling of scATAC-seq data enables functional genomic inference in large human cohorts.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50612-6
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- Publication type:
- Article
Dysregulated IFN-γ signals promote autoimmunity in STAT1 gain-of-function syndrome.
- Published in:
- Science Translational Medicine, 2023, v. 15, n. 703, p. 1, doi. 10.1126/scitranslmed.ade7028
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- Publication type:
- Article
Tryptic peptide screening for primary immunodeficiency disease by LC/ MS-MS.
- Published in:
- Proteomics - Clinical Applications, 2012, v. 6, n. 7/8, p. 394, doi. 10.1002/prca.201100096
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- Publication type:
- Article
1740-P: Gene-Editing of FOXP3 in Antigen-Specific CD4<sup>+</sup> T Cells for Restoration of Immune Tolerance in Type 1 Diabetes.
- Published in:
- Diabetes, 2019, v. 68, p. N.PAG, doi. 10.2337/db19-1740-P
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- Publication type:
- Article