Found: 88
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A CIAS1 mutation in a Japanese girl with familial cold autoinflammatory syndrome.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Familial hemophagocytic lymphohistiocytosis with the MUNC13-4 mutation: a case report.
- Published in:
- 2006
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- Publication type:
- journal article
Tumor in chest wall caused by Mycobacterium bovis BCG infection: Identification on polymerase chain reaction of formalin-fixed specimen.
- Published in:
- Pediatrics International, 2016, v. 58, n. 4, p. 317, doi. 10.1111/ped.12894
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- Publication type:
- Article
Effect of eczema on the association between season of birth and food allergy in Japanese children.
- Published in:
- Pediatrics International, 2013, v. 55, n. 1, p. 7, doi. 10.1111/j.1442-200X.2012.03725.x
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- Publication type:
- Article
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
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
Dysregulation of the Intestinal Microbiome in Patients With Haploinsufficiency of A20.
- Published in:
- Frontiers in Cellular & Infection Microbiology, 2022, v. 12, p. 1, doi. 10.3389/fcimb.2021.787667
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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
Secondary bladder amyloidosis with familial Mediterranean fever in a living donor kidney transplant recipient: a case report.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-2273-2
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- Publication type:
- Article
Acute liver failure in young children with systemic-onset juvenile idiopathic arthritis without macrophage activation syndrome: Report of two cases.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 3, p. E122, doi. 10.1111/j.1440-1754.2011.02213.x
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- Publication type:
- Article
STAT1 Mutations in Chronic Mucocutaneous Candidiasis Diagnosed in an Adult.
- Published in:
- Internal Medicine, 2024, v. 63, n. 9, p. 1269, doi. 10.2169/internalmedicine.2350-23
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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
A combination therapy of whole lung lavage and GM-CSF inhalation in pulmonary alveolar proteinosis.
- Published in:
- Pediatric Pulmonology, 2008, v. 43, n. 8, p. 828, doi. 10.1002/ppul.20856
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- Publication type:
- Article
MR imaging findings of eosinophilic cystitis in an 8-year-old girl.
- Published in:
- 2007
- By:
- Publication type:
- journal article
A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.
- Published in:
- Modern Rheumatology Case Reports, 2024, v. 8, n. 2, p. 368, doi. 10.1093/mrcr/rxad067
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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
FR901228 induces tumor regression associated with induction of Fas ligand and activation of Fas signaling in human osteosarcoma cells.
- Published in:
- Oncogene, 2003, v. 22, n. 58, p. 9231, doi. 10.1038/sj.onc.1207184
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- Publication type:
- Article
Editorial: A new frontier in translational research on autoinflammatory diseases - various aspects of innate immunity on human diseases.
- Published in:
- Frontiers in Immunology, 2023, v. 14, p. 1, doi. 10.3389/fimmu.2023.1147202
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- Publication type:
- Article
Cryopyrin-associated Periodic Syndrome: A Case Report and Review of the Japanese Literature.
- Published in:
- Acta Dermato-Venereologica, 2012, v. 92, n. 4, p. 395, doi. 10.2340/00015555-1322
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- Publication type:
- Article
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.
- Published in:
- Arthritis Research & Therapy, 2014, v. 16, n. 2, p. 1, doi. 10.1186/ar4533
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- Publication type:
- Article
ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 4, p. 525, doi. 10.1093/clinchem/hvaa024
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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
NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination.
- Published in:
- Children, 2021, v. 8, n. 2, p. 1, doi. 10.3390/children8020117
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- Publication type:
- Article
Live-attenuated vaccines in a cryopyrin-associated periodic syndrome patient receiving canakinumab treatment during infancy.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 11, p. 1750, doi. 10.1002/ccr3.1149
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- Publication type:
- Article
Novel AP3B1 mutations in a Hermansky–Pudlak syndrome type2 with neonatal interstitial lung disease.
- Published in:
- Pediatric Allergy & Immunology, 2022, v. 33, n. 2, p. 1, doi. 10.1111/pai.13748
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- Publication type:
- Article
AIRE Gene Mutation Presenting at Age 2 Years With Autoimmune Retinopathy and Steroid-Responsive Acute Liver Failure: A Case Report and Literature Review.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.687280
- By:
- Publication type:
- Article
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
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- 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
- By:
- Publication type:
- Article
Gastric ulcer and gastroenteritis caused by Epstein–Barr virus during immunosuppressive therapy for a child with systemic juvenile idiopathic arthritis.
- Published in:
- 2012
- By:
- Publication type:
- Journal Article
Gastric ulcer and gastroenteritis caused by Epstein–Barr virus during immunosuppressive therapy for a child with systemic juvenile idiopathic arthritis.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Cardiac infiltration in early-onset sarcoidosis associated with a novel heterozygous mutation, G481D, in CARD15.
- Published in:
- Rheumatology, 2009, v. 48, n. 6, p. 706, doi. 10.1093/rheumatology/kep061
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- Publication type:
- Article
Successful resolution of stromal keratitis and uveitis using canakinumab in a patient with chronic infantile neurologic, cutaneous, and articular syndrome: a case study.
- Published in:
- 2015
- By:
- Publication type:
- Report
Efficacy and safety of baricitinib in Japanese patients with autoinflammatory type I interferonopathies (NNS/CANDLE, SAVI, And AGS).
- Published in:
- Pediatric Rheumatology, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12969-023-00817-8
- By:
- Publication type:
- Article
Necrotizing Funisitis as an Intrauterine manifestation of Cryopyrin-Associated Periodic Syndrome: a case report and review of the literature.
- Published in:
- Pediatric Rheumatology, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s12969-021-00578-2
- By:
- 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
- By:
- Publication type:
- Article
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 466, doi. 10.1007/s10875-022-01396-1
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Characterization of NLRP3 Variants in Japanese Cryopyrin-Associated Periodic Syndrome Patients.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 2, p. 221, doi. 10.1007/s10875-011-9629-0
- By:
- Publication type:
- Article
Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2012, v. 32, n. 1, p. 39, doi. 10.1007/s10875-011-9600-0
- By:
- Publication type:
- Article