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Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease.
- Published in:
- Digestive Endoscopy, 2016, v. 28, n. 5, p. 548, doi. 10.1111/den.12604
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- Publication type:
- Article
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.905960
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- Publication type:
- Article
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.917398
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- Publication type:
- Article
Induced Pluripotent Stem Cell-Derived Monocytes/Macrophages in Autoinflammatory Diseases.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.870535
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- Publication type:
- Article
Case Report: A Case of Epstein-Barr Virus-Associated Acute Liver Failure Requiring Hematopoietic Cell Transplantation After Emergent Liver Transplantation.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.825806
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- Publication type:
- Article
The CD40–CD40L axis and IFN-γ play critical roles in Langhans giant cell formation.
- Published in:
- International Immunology, 2012, v. 24, n. 1, p. 5, doi. 10.1093/intimm/dxr088
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- Publication type:
- Article
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-27085-y
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- Publication type:
- Article
Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis.
- Published in:
- British Journal of Haematology, 2015, v. 170, n. 4, p. 532, doi. 10.1111/bjh.13461
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- Publication type:
- Article
Allograft dysfunction after lung transplantation for COPA syndrome: A case report and literature review.
- Published in:
- Modern Rheumatology Case Reports, 2022, v. 6, n. 2, p. 314, doi. 10.1093/mrcr/rxac004
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- Publication type:
- Article
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 5, p. e2315894, doi. 10.1001/jamanetworkopen.2023.15894
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- Publication type:
- Article
Refractory serum immunoglobulin M elevation during anti‐interleukin (IL)‐1‐ or IL‐6‐targeted treatment in four patients with Schnitzler syndrome.
- Published in:
- Journal of Dermatology, 2021, v. 48, n. 11, p. 1789, doi. 10.1111/1346-8138.16124
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- Publication type:
- Article
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Successful treatment of spondyloenchondrodysplasia with baricitinib.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Expanding clinical spectrum of autosomal dominant pyrin-associated autoinflammatory disorder caused by the heterozygous MEFV p.Thr577Asn variant.
- Published in:
- Rheumatology, 2019, v. 58, n. 1, p. 182, doi. 10.1093/rheumatology/key283
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- Publication type:
- Article
A nationwide survey of Aicardi–Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study.
- Published in:
- Rheumatology, 2014, v. 53, n. 3, p. 448, doi. 10.1093/rheumatology/ket372
- By:
- Publication type:
- Article
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi–Goutières syndrome/familial chilblain lupus.
- Published in:
- Rheumatology, 2013, v. 52, n. 2, p. 406, doi. 10.1093/rheumatology/kes181
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- Publication type:
- Article
A novel mutation in early‐onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00505-5
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- Publication type:
- Article
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 1, p. 1, doi. 10.1007/s10875-023-01601-9
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- Publication type:
- Article
Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 6, p. 1187, doi. 10.1007/s10875-021-01021-7
- By:
- Publication type:
- Article
A CD57 CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 1, p. 92, doi. 10.1007/s10875-016-0357-3
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- Publication type:
- Article
Somatic Mosaicism for a NRAS Mutation Associates with Disparate Clinical Features in RAS-associated Leukoproliferative Disease: a Report of Two Cases.
- Published in:
- Journal of Clinical Immunology, 2015, v. 35, n. 5, p. 454, doi. 10.1007/s10875-015-0163-3
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- Publication type:
- Article
Autosomal Dominant Anhidrotic Ectodermal Dysplasia with Immunodeficiency Caused by a Novel NFKBIA Mutation, p.Ser36Tyr, Presents with Mild Ectodermal Dysplasia and Non-Infectious Systemic Inflammation.
- Published in:
- Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1165, doi. 10.1007/s10875-013-9924-z
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- Publication type:
- Article
Multiple Reversions of an IL2RG Mutation Restore T cell Function in an X-linked Severe Combined Immunodeficiency Patient.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 4, p. 690, doi. 10.1007/s10875-012-9684-1
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- Publication type:
- Article
Disseminated BCG Infection Mimicking Metastatic Nasopharyngeal Carcinoma in an Immunodeficient Child with a Novel Hypomorphic NEMO Mutation.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 5, p. 802, doi. 10.1007/s10875-011-9568-9
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- Publication type:
- Article
Hereditary angioedema with a novel mutation, c.1481G>C, in the SERPING1 gene.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Plasma infliximab monitoring contributes to optimize Takayasu arteritis treatment: a case report.
- Published in:
- Journal of Pharmaceutical Health Care & Sciences, 2019, v. 5, n. 1, p. N.PAG, doi. 10.1186/s40780-019-0136-4
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- Publication type:
- Article
Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Successful cord blood transplantation using reduced intensity conditioning in a 5‐month‐old patient with IL‐10RA deficiency.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 8, p. 1, doi. 10.1002/pbc.31056
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- Publication type:
- Article
An efficient diagnosis: A patient with X‐linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin‐18 combined with common laboratory parameters
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 8, p. 1, doi. 10.1002/pbc.29606
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- Publication type:
- Article
Enhanced Chondrogenesis of Induced Pluripotent Stem Cells From Patients With Neonatal-Onset Multisystem Inflammatory Disease Occurs via the Caspase 1-Independent cAMP/Protein Kinase A/CREB Pathway.
- Published in:
- Arthritis & Rheumatology, 2015, v. 67, n. 1, p. 302, doi. 10.1002/art.38912
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- Publication type:
- Article
Real-time single-cell imaging of protein secretion.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep04736
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- Publication type:
- Article
Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases.
- Published in:
- International Immunology, 2019, v. 31, n. 10, p. 649, doi. 10.1093/intimm/dxz047
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- Publication type:
- Article
Promoting awareness of terminology related to unmet medical needs in context of rheumatic diseases in Japan: a systematic review for evaluating unmet medical needs.
- Published in:
- Rheumatology International, 2023, v. 43, n. 11, p. 2021, doi. 10.1007/s00296-023-05425-z
- By:
- Publication type:
- Article
Haploinsufficiency of A20 with a novel mutation of deletion of exons 2-3 of TNFAIP3.
- Published in:
- Modern Rheumatology, 2021, v. 31, n. 2, p. 473, doi. 10.1080/14397595.2020.1719595
- By:
- Publication type:
- Article
A Case with Spondyloenchondrodysplasia Treated with Growth Hormone.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Febrile attacks triggered by milk allergy in an infant with mevalonate kinase deficiency.
- Published in:
- 2016
- By:
- Publication type:
- Letter
EBV‐associated lymphoproliferative disorder in a patient with X‐linked severe combined immunodeficiency with multiple reversions of an IL2RG mutation in T cells.
- Published in:
- EJHaem, 2020, v. 1, n. 2, p. 581, doi. 10.1002/jha2.119
- By:
- Publication type:
- Article
Clinical Characteristics of Cryopyrin‐Associated Periodic Syndrome and Long‐Term Real‐World Efficacy and Tolerability of Canakinumab in Japan: Results of a Nationwide Survey.
- Published in:
- Arthritis & Rheumatology, 2024, v. 76, n. 6, p. 949, doi. 10.1002/art.42808
- By:
- Publication type:
- Article
Augmentation of Stimulator of Interferon Genes–Induced Type I Interferon Production in COPA Syndrome.
- Published in:
- Arthritis & Rheumatology, 2021, v. 73, n. 11, p. 2105, doi. 10.1002/art.41790
- By:
- Publication type:
- Article
Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing.
- Published in:
- DNA Research, 2012, v. 19, n. 2, p. 143, doi. 10.1093/dnares/dsr047
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- Publication type:
- Article
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
- Published in:
- Journal of Clinical Immunology, 2024, v. 45, n. 1, p. 1, doi. 10.1007/s10875-024-01821-7
- By:
- Publication type:
- Article