Found: 43
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Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Recurrent lymphocytic meningitis positive for herpes simplex virus type 2.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Recurrent Lymphocytic Meningitis Positive for Herpes Simplex Virus Type 2.
- Published in:
- Emerging Infectious Diseases, 2009, v. 15, n. 7, p. 1119, doi. 10.3201/eid1507.080716
- By:
- Publication type:
- Article
IRF2BP2 Mutation Is Associated with Increased STAT1 and STAT5 Activation in Two Family Members with Inflammatory Conditions and Lymphopenia.
- Published in:
- Pharmaceuticals (14248247), 2021, v. 14, n. 8, p. 797, doi. 10.3390/ph14080797
- By:
- Publication type:
- Article
Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
- Published in:
- 2016
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- Publication type:
- journal article
Clinical efficacy of SARS‐CoV‐2 Omicron‐neutralizing antibodies in immunoglobulin preparations for the treatment of agammaglobulinemia in patients with primary antibody deficiency.
- Published in:
- Journal of Medical Virology, 2024, v. 96, n. 6, p. 1, doi. 10.1002/jmv.29738
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- Publication type:
- Article
Occurrence of human bocaviruses and parvovirus 4 in solid tissues.
- Published in:
- Journal of Medical Virology, 2012, v. 84, n. 8, p. 1267, doi. 10.1002/jmv.23335
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- Publication type:
- Article
Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.819929
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- Publication type:
- Article
Myiasis during Adventure Sports Race.
- Published in:
- Emerging Infectious Diseases, 2004, v. 10, n. 1, p. 137, doi. 10.3201/eid1001.020825
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- Publication type:
- Article
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
- Published in:
- Nature Genetics, 2014, v. 46, n. 8, p. 812, doi. 10.1038/ng.3040
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- Publication type:
- Article
Complement C4 Deficiency – A Plausible Risk Factor for Non-Tuberculous Mycobacteria (NTM) Infection in Apparently Immunocompetent Patients.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0091450
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- Publication type:
- Article
Diversity of Extended <i>HLA-DRB1</i> Haplotypes in the Finnish Population.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079690
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- Publication type:
- Article
Copy Number Analysis of Complement C4A, C4B and C4A Silencing Mutation by Real-Time Quantitative Polymerase Chain Reaction.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0038813
- By:
- Publication type:
- Article
Tonsillar granuloma associated with hypogammaglobulinemia.
- Published in:
- Allergy, Asthma & Clinical Immunology, 2020, v. 16, n. 1, p. 1, doi. 10.1186/s13223-020-00441-1
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- Publication type:
- Article
Subtly Impaired Humoral Immunity Predisposes to Frequently Recurring Genital Herpes Simplex Virus Type 2 Infection and Herpetic Neuralgia.
- Published in:
- Journal of Infectious Diseases, 2006, v. 194, n. 5, p. 571, doi. 10.1086/506477
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- Publication type:
- Article
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41525-019-0088-5
- By:
- Publication type:
- Article
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles.
- Published in:
- Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02770
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- Publication type:
- Article
Real-time PCR for detection and quantitation of hepatitis B virus DNA.
- Published in:
- Journal of Medical Virology, 2001, v. 65, n. 2, p. 250, doi. 10.1002/jmv.2027
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- Publication type:
- Article
Editorial: Updates on the pathogenesis of common variable immunodeficiency (CVID).
- Published in:
- Frontiers in Immunology, 2023, v. 13, p. 01, doi. 10.3389/fimmu.2022.1130418
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- Publication type:
- Article
Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations.
- Published in:
- Clinical Chemistry, 2017, v. 63, n. 9, p. 1539, doi. 10.1373/clinchem.2017.273458
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- Publication type:
- Article
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 9, p. 789, doi. 10.2340/00015555-3203
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- Publication type:
- Article
Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 5, p. 1007, doi. 10.1007/s10875-023-01461-3
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- Publication type:
- Article
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
- Published in:
- Journal of Clinical Immunology, 2023, v. 43, n. 2, p. 358, doi. 10.1007/s10875-022-01375-6
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- Publication type:
- Article
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
- Published in:
- 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
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Inborn Errors of Immunity on the Island of Ireland — a Cross-Jurisdictional UKPID/ESID Registry Report.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 6, p. 1293, doi. 10.1007/s10875-022-01274-w
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- Publication type:
- Article
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 1064, doi. 10.1007/s10875-021-01007-5
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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
Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1156, doi. 10.1007/s10875-020-00834-2
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- Publication type:
- Article
European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 4, p. 576, doi. 10.1007/s10875-020-00754-1
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- Publication type:
- Article
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
- Published in:
- Journal of Clinical Immunology, 2020, v. 40, n. 3, p. 503, doi. 10.1007/s10875-020-00745-2
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- Publication type:
- Article
Immunoglobulin E—an Innocent Bystander in Host Defense?
- Published in:
- 2018
- By:
- Publication type:
- Editorial
Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.
- Published in:
- Journal of Clinical Immunology, 2017, v. 37, n. 7, p. 650, doi. 10.1007/s10875-017-0426-2
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- Publication type:
- Article
Erratum to: Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.
- Published in:
- 2017
- By:
- Publication type:
- Erratum
Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency.
- Published in:
- Journal of Clinical Immunology, 2014, v. 34, n. 1, p. 114, doi. 10.1007/s10875-013-9966-2
- By:
- Publication type:
- Article
Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.01190
- By:
- Publication type:
- Article
SNP Variants in Major Histocompatibility Complex Are Associated with Sarcoidosis Susceptibility--A Joint Analysis in Four European Populations.
- Published in:
- Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00422
- By:
- Publication type:
- Article
Peripheral hypertrophic subepithelial corneal degeneration: characterization, treatment and association with human leucocyte antigen genes.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 1, p. 71, doi. 10.1111/aos.12029
- By:
- 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
- By:
- Publication type:
- Article
Rubella virus-associated granulomas controlled with allogeneic hematopoietic stem cell transplantation.
- Published in:
- Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01756-z
- By:
- Publication type:
- Article