584 results on '"de Saint Basile, Geneviève"'
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2. Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants
3. Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads
4. Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement
5. Rab44 regulates murine mast cell–driven anaphylaxis through kinesin-1–dependent secretory granule translocation
6. Hemophagocytic lymphohistiocytosis in Egyptian children: diagnosis, treatment challenges and outcome
7. Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect
8. Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases
9. Genetics and Pathogenesis of Hemophagocytic Lymphohistiocytosis
10. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity
11. Genetic diseases predisposing to HLH
12. Contributors
13. Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations
14. Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2–Deficient Intestinal Organoids
15. Severe adult hemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants
16. Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency
17. Hemophagocytic syndrome: primary forms and predisposing conditions
18. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies
19. Kinesin-1 regulates antigen cross-presentation through the scission of tubulations from early endosomes in dendritic cells
20. Rab27a: A Key to Melanosome Transport in Human Melanocytes
21. Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: The Chediak-Higashi Syndrome
22. Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
23. X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene
24. Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice
25. Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations
26. Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice
27. A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice
28. Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
29. Genetics and Pathogenesis of Hemophagocytic Lymphohistiocytosis
30. Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure
31. Innenrücktitelbild: Small Molecule Inhibitors of Interferon‐Induced JAK‐STAT Signalling (Angew. Chem. 32/2022)
32. Inside Back Cover: Small Molecule Inhibitors of Interferon‐Induced JAK‐STAT Signalling (Angew. Chem. Int. Ed. 32/2022)
33. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
34. Characteristics and outcome of early-onset, severe forms of Wiskott-Aldrich syndrome
35. Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11
36. A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis
37. Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex
38. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival
39. Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome
40. Small Molecule Inhibitors of Interferon‐Induced JAK‐STAT Signalling
41. Familial Lymphohistiocytosis
42. Control of Plasmodium falciparum erythrocytic cycle: γδ T cells target the red blood cell–invasive merozoites
43. The munc13-4–rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane
44. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
45. First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases
46. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
47. Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies
48. Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing
49. Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients
50. LYST Controls the Biogenesis of the Endosomal Compartment Required for Secretory Lysosome Function
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