Found: 21
Select item for more details and to access through your institution.
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-39272-0
- By:
- Publication type:
- Article
A Heterozygous Gain-of-Function Variant in IKBKB Associated with Autoimmunity and Autoinflammation.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 512, doi. 10.1007/s10875-022-01395-2
- By:
- Publication type:
- Article
National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
- Published in:
- Modern Rheumatology, 2019, v. 29, n. 1, p. 181, doi. 10.1080/14397595.2018.1442639
- By:
- Publication type:
- Article
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Immunodeficiency in Two Female Patients with Incontinentia Pigmenti with Heterozygous NEMO Mutation Diagnosed by LPS Unresponsiveness.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 6, p. 529, doi. 10.1007/s10875-017-0417-3
- 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
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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Sorafenib in a hepatocellular carcinoma patient with end-stage renal failure: A pharmacokinetic study.
- Published in:
- Hepatology Research, 2014, v. 44, n. 6, p. 685, doi. 10.1111/hepr.12156
- By:
- 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
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
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
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
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
- 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
- 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
Decreased Expression in Nuclear Factor-κB Essential Modulator Due to a Novel Splice-Site Mutation Causes X-linked Ectodermal Dysplasia with Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2011, v. 31, n. 5, p. 762, doi. 10.1007/s10875-011-9560-4
- By:
- 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
In vivo relationship between thalamic nicotinic acetylcholine receptor occupancy rates and antiallodynic effects in a rat model of neuropathic pain: Persistent agonist binding inhibits the expression of antiallodynic effects.
- Published in:
- Synapse, 2011, v. 65, n. 1, p. 77, doi. 10.1002/syn.20819
- By:
- Publication type:
- Article
A case of early-onset sarcoidosis with a six-base deletion in the NOD2 gene.
- Published in:
- 2010
- By:
- Publication type:
- Letter