303 results on '"Roifman, Chaim"'
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2. Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency
3. Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
4. RelB-deficient autoinflammatory pathology presents as interferonopathy, but in mice is interferon-independent
5. NFκB pathway dysregulation due to reduced RelB expression leads to severe autoimmune disorders and declining immunity
6. Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance.
7. Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing.
8. Combined immunodeficiency caused by a novel homozygous NFKB1 mutation
9. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
10. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center
11. STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses
12. Homozygous duplication identified by whole genome sequencing causes LRBA deficiency
13. NF-κB pathway and the Goldilocks principle: Lessons from human disorders of immunity and inflammation
14. A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency—An Ontario Single-Centre Experience Spanning 2013–2023.
15. Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features
16. Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
17. Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations
18. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
19. Human Immune Disorder Arising from Mutation of the α Chain of the Interleukin-2 Receptor
20. Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease
21. The effects of RelB deficiency on lymphocyte development and function
22. Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia
23. Fatal combined immunodeficiency associated with heterozygous mutation in STAT1
24. Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency
25. Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression
26. IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts
27. The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice.
28. IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4–, MyD88-, and TIRAP- but not UNC-93B–deficient patients
29. Outcome of hematopoietic stem cell transplantation for adenosine deaminase–deficient severe combined immunodeficiency
30. Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice
31. Defining combined immunodeficiency
32. Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency
33. The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity
34. A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
35. Bone Marrow Transplantation Using HLA-Matched Unrelated Donors for Patients Suffering from Severe Combined Immunodeficiency
36. Hematopoietic stem cell transplantation for CD3δ deficiency
37. Effects of purine nucleoside phosphorylase deficiency on thymocyte development
38. Increased Resting Energy Expenditure is Associated with Failure to Thrive in Infants with Severe Combined Immunodeficiency
39. Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery
40. Favorable outcome of COVID‐19 in pediatric patients with primary immunodeficiency.
41. Hematopoietic stem cell transplantation for RelB deficiency
42. Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes
43. Hematopoietic Stem Cell Transplantation for Profound T-cell Deficiency (Combined Immunodeficiency)
44. Bone Marrow Transplantation Using HLA-Matched Unrelated Donors for Patients Suffering from Severe Combined Immunodeficiency
45. ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency
46. Improving cellular therapy for primary immune deficiency diseases: Recognition, diagnosis, and management
47. Primary immunodeficiencies: 2009 update
48. Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells
49. EdU incorporation is an alternative non-radioactive assay to [ 3H]thymidine uptake for in vitro measurement of mice T-cell proliferations
50. Functional Differences between Immunoglobulins M and D Expressed on the Surface of an Immature B-Cell Line
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