Works matching AU Sullivan, Kathleen E
Results: 132
A Potential Screening Tool for IPEX Syndrome.
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- Pediatric & Developmental Pathology, 2007, v. 10, n. 2, p. 98, doi. 10.2350/06-07-0130.1
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- Article
Mucosal Invariant T cells are Diminished in Very Early-Onset Inflammatory Bowel Disease.
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- 2021
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- journal article
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.
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- 2020
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- journal article
The yin and the yang of early classical pathway complement disorders.
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- Clinical & Experimental Immunology, 2022, v. 209, n. 2, p. 151, doi. 10.1093/cei/uxac056
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- Article
Practical Management of Iron Overload Disorder (IOD) in Black Rhinoceros (BR; Diceros bicornis).
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- Animals (2076-2615), 2020, v. 10, n. 11, p. 1991, doi. 10.3390/ani10111991
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- Article
Association of the BANK1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.
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- Application of Clinical Genetics, 2009, v. 2, p. 1
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- Article
Gene Expression Profiling to Predict Viridans Group Streptococcal and Invasive Fungal Infection in Pediatric Acute Myeloid Leukemia: A Brief Report from the Children's Oncology Group.
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- Acta Haematologica, 2014, v. 131, n. 3, p. 167, doi. 10.1159/000353758
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- Article
A patient with Pitt–Hopkins syndrome with concomitant common variable immunodeficiency.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63490
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- Article
Increased T‐cell counts in patients with 22q11.2 deletion syndrome who have anxiety.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1815, doi. 10.1002/ajmg.a.61588
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- Article
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2082, doi. 10.1002/ajmg.a.38597
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Combined use of emapalumab and ruxolitinib in a patient with refractory hemophagocytic lymphohistiocytosis was safe and effective.
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- 2021
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- Letter
Convalescent plasma for pediatric patients with SARS‐CoV‐2‐associated acute respiratory distress syndrome.
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- Pediatric Blood & Cancer, 2020, v. 67, n. 11, p. 1, doi. 10.1002/pbc.28693
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Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia.
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- 2016
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- journal article
Cytokine-Induced Monocyte Characteristics in SLE.
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- Journal of Biomedicine & Biotechnology, 2010, p. 1, doi. 10.1155/2010/507475
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- Article
ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.
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- Nature, 2006, v. 442, n. 7101, p. 466, doi. 10.1038/nature04866
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- Article
Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-023-00389-2
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- Article
Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity.
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- Immunological Reviews, 2024, v. 322, n. 1, p. 113, doi. 10.1111/imr.13290
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- Article
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
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- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 2, p. 1, doi. 10.1002/mgg3.1574
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- Article
Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
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- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 6, p. 631, doi. 10.1002/mgg3.310
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- Article
Cytotoxic T-Lymphocyte-Associated Protein 4 Haploinsufficiency-Associated Inflammation Can Occur Independently of T-Cell Hyperproliferation.
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- Frontiers in Immunology, 2018, p. N.PAG, doi. 10.3389/fimmu.2018.01715
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- Article
Overall Downregulation of mRNAs and Enrichment of H3K4me3 Change Near Genome-Wide Association Study Signals in Systemic Lupus Erythematosus: Cell-Specific Effects.
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- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00497
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- Article
Common Variable Immunodeficiency Non-Infectious Disease Endotypes Redefined Using Unbiased Network Clustering in Large Electronic Datasets.
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- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2017.01740
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- Article
3′ polymorphisms of ETS1 are associated with different clinical phenotypes in SLE.
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- Human Mutation, 2000, v. 16, n. 1, p. 49, doi. 10.1002/1098-1004(200007)16:1<49::AID-HUMU9>3.0.CO;2-Z
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- Article
Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.987895
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- Article
Canakinumab for the treatment of autoinflammatory very early onset-inflammatory bowel disease.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.972114
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- Article
Inborn Errors of Immunity Associated With Type 2 Inflammation in the USIDNET Registry.
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- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.831279
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- Article
Proteomic profiling of MIS-C patients indicates heterogeneity relating to interferon gamma dysregulation and vascular endothelial dysfunction.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27544-6
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- Article
Secretion of pro-inflammatory cytokines and chemokines and loss of regulatory signals by fibroblast-like synoviocytes in juvenile idiopathic arthritis.
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- Proteomics - Clinical Applications, 2017, v. 11, n. 5/6, p. n/a, doi. 10.1002/prca.201600088
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- Article
The culture microenvironment of juvenile idiopathic arthritis synovial fibroblasts is favorable for endochondral bone formation through BMP4 and repressed by chondrocytes.
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- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00556-8
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- Article
Juvenile idiopathic arthritis fibroblast-like synoviocytes influence chondrocytes to alter BMP antagonist expression demonstrating an interaction between the two prominent cell types involved in endochondral bone formation.
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- Pediatric Rheumatology, 2020, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12969-020-00483-0
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- Article
Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome.
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- British Journal of Haematology, 2009, v. 145, n. 1, p. 101, doi. 10.1111/j.1365-2141.2009.07595.x
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- Article
The Role of MicroRNAs and Human Epidermal Growth Factor Receptor 2 in Proliferative Lupus Nephritis.
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- Arthritis & Rheumatology, 2015, v. 67, n. 9, p. 2415, doi. 10.1002/art.39219
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- Article
Interferon Regulatory Factor 1 Marks Activated Genes and Can Induce Target Gene Expression in Systemic Lupus Erythematosus.
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- Arthritis & Rheumatology, 2015, v. 67, n. 3, p. 785, doi. 10.1002/art.38964
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- Article
Brief Report: Alternative Activation of Laser-Captured Murine Hemophagocytes.
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- Arthritis & Rheumatology, 2014, v. 66, n. 6, p. 1666, doi. 10.1002/art.38379
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- Article
A150: Control of Cell Proliferation in Lupus Nephritis: The Role of miRNAs and HER2.
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- Arthritis & Rheumatology, 2014, v. 66, p. S194, doi. 10.1002/art.38571
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- Article
H3K4 tri-methylation breadth at transcription start sites impacts the transcriptome of systemic lupus erythematosus.
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- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0179-4
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- Article
Ultraviolet-B Recruits Mannose-Binding Lectin into Skin from Non-Cutaneous Sources.
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- Journal of Investigative Dermatology, 2005, v. 125, n. 1, p. 166, doi. 10.1111/j.0022-202X.2005.23794.x
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- Article
The voltage-gated calcium channel blocker lomerizine is neuroprotective in motor neurons expressing mutant SOD1, but not TDP-43.
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- Journal of Neurochemistry, 2014, v. 130, n. 3, p. 455, doi. 10.1111/jnc.12738
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- Article
Association of Persistent Rubella Virus With Idiopathic Skin Granulomas in Clinically Immunocompetent Adults.
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- 2022
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- journal article
Recurrent and Sustained viral infections in Primary immunodeficiencies.
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- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00665
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- Article
Persons Living With Primary Immunodeficiency Act as Citizen Scientists and Launch Prospective Cohort Body Temperature Study.
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- Journal of Participatory Medicine, 2020, v. 12, n. 4, p. N.PAG, doi. 10.2196/22297
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- Article
Understanding of Inheritance and Genetic Variation Assessed through the Use of an Engaging Real-Life Survey.
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- Public Health Genomics, 2020, v. 23, n. 5/6, p. 246, doi. 10.1159/000512086
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- Article
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
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- Journal of Crohn's & Colitis, 2021, v. 15, n. 11, p. 1908, doi. 10.1093/ecco-jcc/jjab077
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- Article
Mannose Binding Lectin (MBL) Polymorphisms Associated with Low MBL Production in Patients with Dermatomyositis<sup>1</sup>.
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- Journal of Investigative Dermatology, 2002, v. 119, n. 6, p. 1394, doi. 10.1046/j.1523-1747.2002.19608.x
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- Article
Associations of Tumor Necrosis Factor α and HLA Polymorphisms with Adult Dermatomyositis: Implications for a Unique Pathogenesis<sup>1</sup>.
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- Journal of Investigative Dermatology, 2002, v. 119, n. 3, p. 617, doi. 10.1046/j.1523-1747.2002.01869.x
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- Article
Ras‐associated autoimmune lymphoproliferative disorder.
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- British Journal of Haematology, 2024, v. 205, n. 3, p. 819, doi. 10.1111/bjh.19564
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- Article
Failure of physiologic doses of pure UVA or UVB to induce lesions in photosensitive cutaneous lupus erythematosus: implications for phototesting.
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- Photodermatology, Photoimmunology & Photomedicine, 2006, v. 22, n. 6, p. 290, doi. 10.1111/j.1600-0781.2006.00255.x
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- Article
Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
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- Immunological Reviews, 2019, v. 287, n. 1, p. 186, doi. 10.1111/imr.12701
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- Article
Drug Sensitivity of Vaccine-Derived Rubella Viruses and Quasispecies Evolution in Granulomatous Lesions of Two Ataxia-Telangiectasia Patients Treated with Nitazoxanide.
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- Pathogens, 2022, v. 11, n. 3, p. 338, doi. 10.3390/pathogens11030338
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- Article
Immune urinary biomarkers predict infant cardiac surgery-associated acute kidney injury.
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- Pediatric Nephrology, 2024, v. 39, n. 2, p. 589, doi. 10.1007/s00467-023-06051-4
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- Article