236 results on '"Arostegui, Juan I"'
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2. Pathogenic NLRP3 mutants form constitutively active inflammasomes resulting in immune-metabolic limitation of IL-1β production
3. Disease phenotypes in adult patients with suspected undifferentiated autoinflammatory diseases and PFAPA syndrome: Clinical and therapeutic implications
4. Paradigm shift in monogenic autoinflammatory diseases and systemic vasculitis: The VEXAS syndrome
5. Cambio de paradigma en las enfermedades autoinflamatorias monogénicas y las vasculitis sistémicas: el síndrome VEXAS
6. Palindromic rheumatism: Evidence of four subtypes of palindromic-like arthritis based in either MEFV or rheumatoid factor/ACPA status
7. Long-Term Visual Outcome of Patients with Blau Syndrome.
8. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
9. Genetic diagnosis of autoinflammatory disease patients using clinical exome sequencing
10. Description of a novel splice site variant in UBA1 gene causing VEXAS syndrome
11. Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations
12. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases
13. Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome
14. Blau Syndrome–Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series
15. MCC950 closes the active conformation of NLRP3 to an inactive state
16. Impact of Autologous Stem Cell Transplantation on the Incidence and Outcome of Oligoclonal Bands in Patients with Light-Chain Amyloidosis
17. Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.
18. DNA demethylation of inflammasome-associated genes is enhanced in patients with cryopyrin-associated periodic syndromes
19. Prognostic Impact of Serum Heavy/Light Chain Pairs in Patients With Monoclonal Gammopathy of Undetermined Significance and Smoldering Myeloma: Long-Term Results From a Single Institution
20. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
21. Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center
22. Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
23. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
24. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases
25. Addendum: MCC950 closes the active conformation of NLRP3 to an inactive state
26. Inherited biallelic CSF3Rmutations in severe congenital neutropenia
27. Chapter 25 - Autoinflammatory disorders
28. Chilblains outbreak during COVID ‐19 pandemic: A Type‐I interferonopathy?
29. Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant
30. A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
31. Non-Hodgkin lymphoma in pediatric patients with common variable immunodeficiency
32. Hereditary systemic autoinflammatory diseases
33. Enfermedades autoinflamatorias sistémicas hereditarias
34. Etiopatogenia de los síndromes asociados a criopirina: genética, bases moleculares y el inflamasoma
35. Excess Serum Interleukin‐18 Distinguishes Patients With Pathogenic Mutations inPSTPIP1
36. Plasma Stromal Cell-Derived Factor (SDF)-1 Levels, SDF1-3′A Genotype, and Expression of CXCR4 on T Lymphocytes: Their Impact on Resistance to Human Immunodeficiency Virus Type 1 Infection and Its Progression
37. Multiple sclerosis in a patient with cryopyrin-associated autoinflammatory syndrome: Evidence that autoinflammation is the common link
38. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes
39. Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome)
40. Manifestaciones cutáneas en las enfermedades autoinflamatorias sistémicas
41. Enfermedades autoinflamatorias sistémicas hereditarias. Parte II: síndromes periódicos asociados a criopirina, granulomatosis sistémicas pediátricas y síndrome PAPA
42. Deficiency of adenosine deaminase 2 (DADA2) in Adults and Children: Experience from India
43. Enfermedades autoinflamatorias sistémicas hereditarias. Síndromes hereditarios de fiebre periódica
44. IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis
45. Excess Serum Interleukin-18 Distinguishes Patients with Pathogenic Mutations in PSTPIP1
46. Palindromic Rheumatism: Autoimmunity, Inflammation or Both? Evidence for Four Subtypes of Palindromic-Like Arthritis Based in Either MEFV or RF/ACPA Status
47. Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases
48. Deficiency of Adenosine Deaminase 2 in Adults and Children: Experience From India
49. Contributors
50. An Unexpectedly High Frequency of MEFV Mutations in Patients With Anti-Citrullinated Protein Antibody-Negative Palindromic Rheumatism
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