32 results on '"Bustamante Jacinta"'
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2. Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency
3. IMMUNODEFICIENCIES: Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
4. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
5. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
6. Anti–IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia
7. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
8. Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency
9. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
10. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
11. Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency
12. Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency
13. Genetic lessons learned from X–linked Mendelian susceptibility to mycobacterial diseases
14. Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
15. lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency
16. IRF8 Mutations and Human Dendritic-Cell Immunodeficiency
17. Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
18. Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
19. Multiple cutaneous squamous cell carcinomas in a patient with interferon γ receptor 2 (IFNγR2) deficiency
20. Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis
21. A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
22. Alu-Repeat-Induced Deletions Within the NCF2 Gene Causing p67-phox-Deficient Chronic Granulomatous Disease (CGD)
23. A partial form of recessive STAT1 deficiency in humans
24. Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense
25. BCG-osis and tuberculosis in a child with chronic granulomatous disease
26. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
27. IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease
28. From idiopathic infectious diseases to novel primary immunodeficiencies
29. Inherited disorders of human Toll-like receptor signaling: immunological implications
30. Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function
31. Pyogenic Bacterial Infections in Humans with IRAK-4 Deficiency
32. Hodgkin lymphoma in 2 children with chronic granulomatous disease
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