49 results on '"Ben Mustapha , Imen"'
Search Results
2. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity
3. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
4. In silico comparative study of SARS-CoV-2 proteins and antigenic proteins in BCG, OPV, MMR and other vaccines: evidence of a possible putative protective effect
5. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels
6. Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
7. A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
8. Comprehensive review of autoantibodies in patients with hyper-IgM syndrome
9. Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate
10. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
11. Diagnostic challenge in a series of eleven patients with hyper IgE syndromes
12. African Society for Immunodeficiency (Asid) Guidelines for Diagnosis and Management of Inborn Errors of Immunity in Africa: Core Concept, Development and Initial Results
13. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
14. A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients
15. X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
16. Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency
17. Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients
18. Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia
19. Profound differences in IgE and IgG recognition of micro‐arrayed allergens in hyper‐IgE syndromes
20. A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients
21. Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.
22. Clinical, Immunological and Genetic Findings of a Large Tunisian Series of Major Histocompatibility Complex Class II Deficiency Patients
23. Case Report: FOXP3 Mutation in a Patient Presenting With ALPS
24. Profound differences in IgE and IgG recognition of micro‐arrayed allergens in hyper‐IgE syndromes.
25. Primary immunodeficiencies in highly consanguineous North African populations
26. Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients
27. Revisiting human IL-12R(beta)1 deficiency: a survey of 141 patients from 30 countries
28. Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
29. Autoantibodies in patients with interleukin 12 receptor beta 1 deficiency
30. Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression
31. Adénite granulomateuse révélant un déficit en récepteur de l’IL12
32. Granulomatous lymphadenitis revealing a deficiency in receptor IL12
33. CUTANEOUS MANIFESTATIONS OF PRIMARY IMMUNODEFICIENCY DISEASES IN TUNISIAN CHILDREN
34. Comprehensive review of autoantibodies in patients with hyper-IgM syndrome
35. Inherited IL-12p40 Deficiency
36. Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients
37. Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population
38. The extended clinical phenotype of 64 patients with DOCK8 deficiency
39. IL-17 T Cells’ Defective Differentiation In Vitro Despite Normal Range Ex Vivo in Chronic Mucocutaneous Candidiasis Due to STAT1 Mutation
40. Novel insights into <italic>FAS</italic> defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
41. Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients
42. Novel insights into FASdefects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients
43. Hypomorphic, Homozygous Mutations In Phosphoglucomutase-3 Impair Immunity And Increase Serum IgE Levels
44. Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency
45. A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients
46. High Susceptibility for Enterovirus Infection and Virus Excretion Features in Tunisian Patients with Primary Immunodeficiencies
47. Cutaneous Manifestations of Primary Immunodeficiency Diseases in Tunisian Children.
48. Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients.
49. [Granulomatous lymphadenitis revealing a deficiency in receptor IL12].
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