40 results on '"Fusaro, Mathieu"'
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2. Type I interferon associated epistasis may contribute to early disease-onset and high disease activity in juvenile-onset lupus
3. A large deletion in a non-coding regulatory region leads to NFKB1 haploinsufficiency in two adult siblings
4. NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells
5. Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited
6. Successful treatment of JAK1-associated inflammatory disease
7. Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
8. Genetic Diagnosis Guides Treatment of Autoimmune Enteropathy
9. Mechanisms underlying skin inflammation of DOCK8 deficiency
10. A Complex Infectious, Inflammatory, and Autoimmune Phenotype Reveals 22q11.2 Deletion Syndrome in an Adult
11. A New Missense Mutation in CD79B Leads to Autosomal Recessive Agammaglobulinemia in Two Siblings
12. Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations
13. EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation
14. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients
15. Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation
16. Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection
17. Contributors
18. Combined immune deficiencies (CIDs)
19. Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients
20. Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
21. A New Patient with p40phox Deficiency and Chronic Immune Thrombocytopenia.
22. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
23. Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited
24. Inherited TNFSF9 deficiency causes broad Epstein–Barr virus infection with EBV+ smooth muscle tumors
25. Chapitre 5 - Exploration génétique des déficits immunitaires héréditaires
26. Altered Basal Lipid Metabolism Underlies the Functional Impairment of Naive CD8+ T Cells in Elderly Humans
27. Molecular Tuning of Actin Dynamics in Leukocyte Migration as Revealed by Immune-Related Actinopathies
28. NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood
29. Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome
30. Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing
31. DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity
32. Efficacy of ruxolitinib in subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis
33. Alemtuzumab as First Line Treatment in Children with Familial Lymphohistiocytosis
34. Extensive multilineage analysis in patients with mixed chimerism after allogeneic transplantation for sickle cell disease: insight into hematopoiesis and engraftment thresholds for gene therapy
35. Early Antiretroviral Therapy Preserves Functional Follicular Helper T and HIV-Specific B Cells in the Gut Mucosa of HIV-1–Infected Individuals
36. Improvement of the Xpert Carba-R Kit for the Detection of Carbapenemase-Producing Enterobacteriaceae
37. 231. Mixed Chimerism After Allogeneic Hematopoietic Stem Cell Transplantation in Sickle Cell Disease: Preliminary Results on Peripheral Blood Sorted Subpopulations and Erythroid Progenitors
38. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
39. Altered Basal Lipid Metabolism Underlies the Functional Impairment of Naive CD8 + T Cells in Elderly Humans.
40. Extensive multilineage analysis in patients with mixed chimerism after allogeneic transplantation for sickle cell disease: insight into hematopoiesis and engraftment thresholds for gene therapy.
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