83 results on '"Casanova Jean-Laurent"'
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2. Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review
3. Inherited human ezrin deficiency impairs adaptive immunity
4. Inherited and acquired errors of type I interferon immunity govern susceptibility to COVID-19 and multisystem inflammatory syndrome in children
5. Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity
6. Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19
7. IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis
8. Lessons learned from the study of human inborn errors of innate immunity
9. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
10. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti
11. Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants
12. Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells
13. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
14. Exome and genome sequencing for inborn errors of immunity
15. Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases
16. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
17. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both
18. Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity
19. Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function
20. The proteome of Toll-like receptor 3–stimulated human immortalized fibroblasts: Implications for susceptibility to herpes simplex virus encephalitis
21. Primary immunodeficiencies: A rapidly evolving story
22. Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species
23. NEMO is a key component of NF-κB– and IRF-3–dependent TLR3-mediated immunity to herpes simplex virus
24. Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies
25. Primary immunodeficiencies may reveal potential infectious diseases associated with immune-targeting mAb treatments
26. A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency
27. Primary immunodeficiencies: 2009 update
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. A novel mutation in the POLE2 gene causing combined immunodeficiency
30. The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases
31. A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome
32. BCG-osis and tuberculosis in a child with chronic granulomatous disease
33. Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency
34. The proteome of Toll-like receptor 3–stimulated human immortalized fibroblasts: Implications for susceptibility to herpes simplex virus encephalitis
35. A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
36. Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency
37. Human TANK-binding kinase 1 is required for early autophagy induction upon herpes simplex virus 1 infection
38. Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome
39. From idiopathic infectious diseases to novel primary immunodeficiencies
40. Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor β1 deficiency and ataxia-telangiectasia
41. Cellular and humoral aberrations in a kindred with IL-1 receptor–associated kinase 4 deficiency
42. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
43. Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
44. Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
45. Primary immunodeficiency diseases: An update
46. Epithelial barrier dysfunction in desmoglein-1 deficiency
47. Defects in the CD19 complex predispose to glomerulonephritis, as well as IgG1 subclass deficiency
48. Hodgkin lymphoma in 2 children with chronic granulomatous disease
49. A novel kindred with inherited STAT2 deficiency and severe viral illness
50. Impaired T-Independent IgM Responses Due To Irak-4-, MyD88 Deficiency Or Splenectomy
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