732 results on '"Aksentijevich, Ivona"'
Search Results
2. Somatic mutations in autoinflammatory and autoimmune disease
3. A unified metric of human immune health
4. The past 25 years in paediatric rheumatology: insights from monogenic diseases
5. Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency
6. Genetically transitional disease: conceptual understanding and applicability to rheumatic disease
7. OTULIN-related conditions: Report of a new case and review of the literature using GenIA
8. T cell repertoire breadth is associated with the number of acute respiratory infections in the LoewenKIDS birth cohort
9. Monogenic Autoinflammatory Syndromes
10. A gain-of-function variation in PLCG1 causes a new immune dysregulation disease
11. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2
12. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
13. Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
14. Cellular signaling, molecular activation, and regulation of auto-active inflammasomes: Insights from disease-associated variants
15. Contributors
16. Disorders of ubiquitylation: unchained inflammation
17. Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)
18. Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.
19. Curating Genetic Associations With Rheumatologic Autoimmune Diseases to Improve Patient Outcomes.
20. Comprehensive clinical phenotype, genotype and therapy in Yao syndrome.
21. 117 Clinical and Immunologic Phenotype of Prolidase Deficiency
22. 138 OTULIN-related conditions: Report of a new case and review of the literature using GenIA
23. Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice
24. OTULIN-related conditions: Report of a new case and review of the literature using GenIA
25. OTULIN Deficiency-Associated Disease Spectrum
26. Monogenic Systemic Autoinflammatory Diseases
27. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases
28. Interrupting an IFN-γ-dependent feedback loop in the syndrome of pyogenic arthritis with pyoderma gangrenosum and acne.
29. Genetic Approach to the Diagnosis of Autoinflammatory Diseases
30. Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report
31. A20 Haploinsufficiency Presenting with a Combined Immunodeficiency
32. Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis
33. The sickening consequences of too much SYK signaling
34. Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2
35. Expanding the Clinical Phenotype of Chronic Granulomatous Disease: a Female Patient with a De Novo Mutation in CYBB
36. Implications of combined NOD2 and other gene mutations in autoinflammatory diseases
37. TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6
38. 172 Identification of TNFa-Related Biomarkers in Patients and Carriers with Adenosine Deaminase 2 Deficiency (DADA2)
39. NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy
40. How to Build a Fire: The Genetics of Autoinflammatory Diseases
41. Cholesterol metabolism drives regulatory B cell IL-10 through provision of geranylgeranyl pyrophosphate
42. AA Amyloidosis
43. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
44. TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency
45. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
46. Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease
47. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
48. Deficiency of Adenosine Deaminase 2 (DADA2) — A New Autoinflammatory Disease with Multisystem Features
49. Biallelic human SHARPINloss of function induces autoinflammation and immunodeficiency
50. Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.