211 results on '"Rieux-Laucat, Frederic"'
Search Results
2. A20 Haploinsufficiency: A Systematic Review of 177 Cases
3. A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings
4. Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders
5. Loss of function of XBP1 splicing activity of IRE1α favors B cell tolerance breakdown
6. Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing
7. JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
8. Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome
9. PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants
10. Integrated analysis of whole blood oxylipin and cytokine responses after bacterial, viral, and T cell stimulation reveals new immune networks
11. DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity
12. Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy
13. AKT activity orchestrates marginal zone B cell development in mice and humans
14. Severe hematopoietic stem cell inflammation compromises chronic granulomatous disease gene therapy
15. A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis
16. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients
17. Single-cell analysis of FOXP3 deficiencies in humans and mice unmasks intrinsic and extrinsic CD4+ T cell perturbations
18. Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation
19. ACK1 and BRK non-receptor tyrosine kinase deficiencies are associated with familial systemic lupus and involved in efferocytosis
20. Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes
21. The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity
22. Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice
23. Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations
24. 94 Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation
25. Familial and syndromic lupus share the same phenotype as other early-onset forms of lupus
26. Le phénotype des lupus familiaux ou syndromiques n’est pas différent des autres formes de lupus juvéniles
27. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
28. X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene
29. Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations
30. Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response
31. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
32. VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes
33. Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
34. Clonal hematopoiesis is not significantly associated with COVID-19 disease severity
35. Biological functions of extracellular vesicles from mammalian cells
36. Autoimmunity by haploinsufficiency
37. A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency
38. Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation
39. MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival
40. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
41. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans
42. Abatacept is useful in autoimmune cytopenia with immunopathologic manifestations caused by CTLA-4 defects
43. Chapitre 31 - Anomalies immunitaires associées à NF-κB
44. A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation
45. Immunogenicity of BNT162b2 vaccine against the Alpha and Delta variants in immunocompromised patients with systemic inflammatory diseases
46. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop
47. Reduced Expression of FOXP3 and Regulatory T-Cell Function in Severe Forms of Early-onset Autoimmune Enteropathy
48. Distinct systemic and mucosal immune responses during acute SARS-CoV-2 infection
49. Digestive histopathological presentation of IPEX syndrome
50. Defective Human Interleukin 2 Receptor γ Chain in an Atypical X Chromosome-Linked Severe Combined Immunodeficiency with Peripheral T Cells
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