51 results on '"Bustamante Jacinta"'
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2. Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review
3. Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria
4. Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria
5. Interstitial lung disease and mycobacteriosis in children with inherited CCR2 deficiency
6. Inborn errors of human transcription factors governing IFN-γ antimycobacterial immunity
7. Exploration biologique des susceptibilités aux mycobactéries
8. Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria
9. Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy
10. Indications and Safety of Rituximab in Pediatric Neurology: A 10-Year Retrospective Study
11. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)
12. Mycobacterial diseases in patients with inborn errors of immunity
13. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)
14. Clinical and immunological profile of children with Mendelian Susceptibility to Mycobacterial Diseases (MSMD) from an Indian tertiary care hospital
15. Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing
16. Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria
17. Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency
18. A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection
19. Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions
20. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity
21. IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis
22. Genetic diagnosis of primary immunodeficiencies: A survey of the French national registry
23. Disseminated abscesses due to Mycoplasma faucium in a patient with activated PI3Kδ syndrome type 2
24. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
25. Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation
26. Disseminated bacille Calmette–Guérin disease in an infant with a novel biallelic mutation in interferon gamma receptor-1 gene
27. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases
28. Anti–IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia
29. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
30. Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency
31. Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
32. Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function
33. Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region
34. 135 Mycobacterial Infections in cChildren With Chronic Granulomatous Disease
35. Hodgkin lymphoma in 2 children with chronic granulomatous disease
36. Hematologically important mutations: X-linked chronic granulomatous disease (third update)
37. Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis
38. Primary immunodeficiencies of protective immunity to primary infections
39. Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
40. S.129. The Role of Nuclear Factor Kappa B (NF-κB) and the IL-12/23-IFN-γ Axis in the Activation of the NADPH Oxidase System
41. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
42. From Infectious Diseases to Primary Immunodeficiencies
43. Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases
44. F.62. Essential Role of Nuclear Factor-kappa B for NADPH Oxidase Activity, CYBB and NCF-1 Gene Expression in Normal and Anhidrotic Ectodermal Dysplasia Leukocytes
45. BCG-osis and tuberculosis in a child with chronic granulomatous disease
46. Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]
47. Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features
48. The NEMO Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
49. From idiopathic infectious diseases to novel primary immunodeficiencies
50. Corrigendum to “Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency” [Clin. Immunol. 110 (2004) 22–29]
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