313 results on '"Reichenbach, Janine"'
Search Results
2. Expression of a large coding sequence: Gene therapy vectors for Ataxia Telangiectasia
3. Targeted knock-in of a NCF1 coding sequence into the endogenous NCF2 locus leads to myeloid phenotypic correction of p47 -deficient chronic granulomatous disease
4. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
5. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
6. Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis
7. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study
8. Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions
9. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
10. Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis
11. TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cells
12. A 19-month-old Boy With Refractory Cervical Adenitis
13. Non-invasive near-infrared fluorescence imaging of the neutrophil response in a mouse model of transient cerebral ischaemia
14. Modern management of phagocyte defects
15. Restoration of anti- Aspergillus defense by neutrophil extracellular traps in human chronic granulomatous disease after gene therapy is calprotectin-dependent
16. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
17. Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
18. Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis
19. Interleukin-12 Receptor β1 Deficiency in a Patient with Abdominal Tuberculosis
20. Defective nuclear entry of hydrolases prevents neutrophil extracellular trap formation in patients with chronic granulomatous disease
21. Extracerebellar MRI—Lesions in Ataxia Telangiectasia Go Along with Deficiency of the GH/IGF-1 Axis, Markedly Reduced Body Weight, High Ataxia Scores and Advanced Age
22. Actinomyces in chronic granulomatous disease: an emerging and unanticipated pathogen
23. Novel Diagnostic Tool for p47 -Deficient Chronic Granulomatous Disease Patient and Carrier Detection
24. Catapult-like release of mitochondrial DNA by eosinophils contributes to antibacterial defense
25. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation
26. Membrane Dynamics and Organization of the Phagocyte NADPH Oxidase in PLB-985 Cells
27. Modern management of primary B-cell immunodeficiencies
28. Redundant ability of phagocytes to kill Aspergillus species
29. Swiss newborn screening for severe T and B cell deficiency with a combined TREC/KREC assay – management recommendations
30. CRISPR-Directed Therapeutic Correction at the NCF1 Locus Is Challenged by Frequent Incidence of Chromosomal Deletions
31. Identification of Severe Combined Immunodeficiency by T-Cell Receptor Excision Circles Quantification Using Neonatal Guthrie Cards
32. Revisiting human IL-12R(beta)1 deficiency: a survey of 141 patients from 30 countries
33. Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency
34. Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
35. Treatment of HCV infection with interferon alpha-2b and ribavirin in a patient with X-linked lymphoproliferative syndrome
36. Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
37. From idiopathic infectious diseases to novel primary immunodeficiencies
38. Pipette - Swiss Laboratory Medicine Fokus: Pädiatrisch- und geriatrische Labormedizin
39. A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
40. Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome
41. Heterozygous signal transducer and activator of transcription 3 mutations in hyper-IgE syndrome result in altered B-cell maturation
42. Serum ECP levels and methacholine challenge in infants with recurrent wheezing
43. NEMO is a key component of NF-κB– and IRF-3–dependent TLR3-mediated immunity to herpes simplex virus
44. Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects
45. Lentiviral gene therapy vector with UCOE stably restores function in iPSC-derived neutrophils of a CDG patient
46. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry
47. Additional file 1: of Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report
48. High Levels of IL-18 and IFN-γ in Chronically Inflamed Tissue in Chronic Granulomatous Disease
49. Novel Diagnostic Tool for p47 -Deficient Chronic Granulomatous Disease Patient and Carrier Detection
50. Persistent mammalian orthoreovirus, coxsackievirus and adenovirus co-infection in a child with a primary immunodeficiency detected by metagenomic sequencing: a case report
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