144 results on '"Casanova Jean-Laurent"'
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2. Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation
3. Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation
4. Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins
5. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency
6. Chronic Disseminated Salmonellosis in a Patient With Interleukin-12p40 Deficiency
7. Dedicator of cytokinesis 8–deficient CD4+ T cells are biased to a TH2 effector fate at the expense of TH1 and TH17 cells
8. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
9. Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8
10. Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti
11. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
12. 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
13. Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency
14. A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency
15. IMMUNODEFICIENCIES: Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
16. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections
17. More than Meets the Eye: Monogenic Autoimmunity Strikes Again
18. INFECTIOUS DISEASE: Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency
19. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood
20. Posaconazole Treatment of Extensive Skin and Nail Dermatophytosis Due to Autosomal Recessive Deficiency of CARD9
21. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
22. Anti–IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia
23. A novel mutation in the POLE2 gene causing combined immunodeficiency
24. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity
25. IMMUNOLOGY: Autoimmunity by haploinsufficiency
26. STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy
27. Proteomics in immunity and herpes simplex encephalitis
28. A Homozygous PDE6D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5E Protein to the Primary Cilium
29. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
30. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species–induced meningoencephalitis, colitis, or both
31. Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency
32. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells
33. Deep Dermatophytosis and Inherited CARD9 Deficiency
34. An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis
35. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
36. New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe
37. Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia
38. The proteome of Toll-like receptor 3–stimulated human immortalized fibroblasts: Implications for susceptibility to herpes simplex virus encephalitis
39. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
40. Primary immunodeficiencies: A rapidly evolving story
41. Pulmonary manifestations of chronic granulomatous disease
42. Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells
43. Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species
44. Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency
45. Mycobacterial Disease and Impaired IFN-γ Immunity in Humans with Inherited ISG15 Deficiency
46. Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
47. Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease
48. A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome
49. DOCK8 Large Genomic Deletions and Abdominal Vasculitis in Children with Autosomal Recessive hyper-IgE Syndrome
50. Inborn Errors of Human JAKs and STATs
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