139 results on '"BariŞ, Safa"'
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2. DOCK8 deficiency due to a deep intronic variant in two kindreds with hyper-IgE syndrome
3. MHC Class II Deficiency: Clinical, Immunological, and Genetic Insights in a Large Multicenter Cohort
4. Neurocognitive Impairment in Patients With Ataxia Telangiectasia and Their Unaffected Parents: Is It Similar?
5. Regulatory T-cell dysfunction and cutaneous exposure to Staphylococcus aureus underlie eczema in DOCK8 deficiency
6. Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study
7. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study
8. Ruxolitinib treatment ameliorates clinical, immunologic, and transcriptomic aberrations in patients with STAT3 gain-of-function disease
9. Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency
10. Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome
11. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
12. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
13. Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis
14. Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1
15. Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6
16. Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
17. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
18. The Middle East and North Africa Diagnosis and Management Guidelines for Inborn Errors of Immunity
19. Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry
20. Mucus sialylation determines intestinal host-commensal homeostasis
21. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
22. Two patients with chronic mucocutaneous candidiasis caused by TRAF3IP2 deficiency
23. A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis
24. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study
25. Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
26. Diagnostic Modalities Based on Flow Cytometry for Chronic Granulomatous Disease: A Multicenter Study in a Well-Defined Cohort
27. Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
28. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score
29. Oral Moniliasis and Failure to Thrive
30. Recurrent Respiratory Infections and Chronic Hepatic Disease
31. Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency
32. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency
33. Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study
34. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation
35. Haploidentical Related Donor Hematopoietic Stem Cell Transplantation for Dedicator-of-Cytokinesis 8 Deficiency Using Post-Transplantation Cyclophosphamide
36. Basophil activation test for inhalant allergens in pediatric patients with allergic rhinitis
37. Role of glutathione S-transferase M1, T1 and P1 gene polymorphisms in childhood acute lymphoblastic leukemia susceptibility in a Turkish population
38. Nebulized fluticasone propionate, a viable alternative to systemic route in the management of childhood moderate asthma attack: A double-blind, double-dummy study
39. Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients” [Clinical Immunology 255 (2023) 109757]
40. 25 A phase 2/3 study evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE disease)
41. A Rare Immunodeficiency As a Cause of Inflammatory Bowel Disease; ARPC1B Deficiency
42. Clinical and immunological outcomes of SARS-CoV-2 infection in patients with inborn errors of immunity receiving different brands and doses of COVID-19 vaccines.
43. TNFRSF13B VARIANTS ACT AS MODIFIERS TO CLINICAL PHENOTYPES IN COMMON VARIABLE IMMUNE DEFICIENCY DISORDERS.
44. DNA repair gene XPD and XRCC1 polymorphisms and the risk of febrile neutropenia and mucositis in children with leukemia and lymphoma
45. Expanding the clinical and immunological phenotypes and natural history of MALT1 deficiency
46. Outcome of hypogammaglobulinemia in children: Immunoglobulin levels as predictors
47. DNA repair gene XPD and XRCC1 polymorphisms and the risk of childhood acute lymphoblastic leukemia
48. GIMAP5 maintains liver endothelial cell homeostasis and
49. The evaluation of radiosensitivity in patients with STAT3 deficiency
50. Reference values for T and B lymphocyte subpopulations in Turkish children and adults
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