| 31. |
- Eneslätt, Kjell, et al.
(författare)
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The regulation of FasL expression : a distinguishing feature between monocytes and T lymphocytes/NK cells with possible implications for SLE
- 2001
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Ingår i: Journal of Clinical Immunology. - 0271-9142 .- 1573-2592. ; 21:3, s. 183-192
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Tidskriftsartikel (refereegranskat)abstract
- Monocytes and lymphocytes from patients with systemic lupus erythematosus (SLE) had a higher cell surface expression of Fast than the corresponding cells from healthy individuals. Inhibitors of metalloproteases upregulated the surface expression of Fast in peripheral blood lymphocytes (PBL), indicating that a metalloprotease is responsible for the cleavage of FasL. The level of sFasL in serum was slightly increased in the patient group compared to the controls. Therefore, the possible contribution of various mononuclear cell types to the release of Fast was analyzed. Isolated NK cells and T lymphocytes released Fast into the medium and the release was prevented by inhibitors of metalloproteases. In contrast, isolated monocytes did not release Fast. FasR expression was elevated in patients with inverted CD4/CD8 ratio, while Fast expression showed no relationship to CD4/CD8 ratio. The absence of Fast release by isolated cells and a high level of surface expression of Fast distinguish monocytes and T lymphocytes/NK cells.
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| 32. |
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| 33. |
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| 34. |
- Fang, MY, et al.
(författare)
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T Cell Repertoire Abnormality in Immunodeficiency Patients with DNA Repair and Methylation Defects
- 2022
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 42:2, s. 375-393
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Tidskriftsartikel (refereegranskat)abstract
- Both DNA damage response and methylation play a crucial role in antigen receptor recombination by creating a diverse repertoire in developing lymphocytes, but how their defects relate to T cell repertoire and phenotypic heterogeneity of immunodeficiency remains obscure. We studied the TCR repertoire in patients with the mutation in different genes (ATM, DNMT3B,ZBTB24,RAG1,DCLRE1C, andJAK3) and uncovered distinct characteristics of repertoire diversity. We propose that early aberrancies in thymus T cell development predispose to the heterogeneous phenotypes of the immunodeficiency spectrum. Shorter CDR3 lengths in ATM-deficient patients, resulting from a decreased number of nucleotide insertions during VDJ recombination in the pre-selected TCR repertoire, as well as the increment of CDR3 tyrosine residues, lead to the enrichment of pathology-associated TCRs, which may contribute to the phenotypes of ATM deficiency. Furthermore, patients withDNMT3BandZBTB24mutations who exhibit discrepant phenotypes present longer CDR3 lengths and reduced number of known pathology-associated TCRs.
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| 35. |
- Fasth, Anders, 1945, et al.
(författare)
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Quality of life and health-care resource utilization among children with primary immunodeficiency receiving home treatment with subcutaneous human immunoglobulin.
- 2008
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 0271-9142 .- 1573-2592. ; 28:4, s. 370-8
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Among patients with antibody deficiency, patient-reported outcomes are important for choosing between equally effective treatment regimens. PATIENTS AND METHODS: Twelve children (1.7-17.1 years) with primary immunodeficiency were switched from hospital-based intravenous IgG treatment to home treatment with subcutaneous IgG. Quality of life (Child Health Questionnaire) and health-care resource utilization were assessed at baseline and after 3 and 6 months. RESULTS: From the parents' perspective, significant improvements were seen after 6 months for mental health (median difference; 95% confidence interval, 15.0; 0.0, 22.5); change in health (1.0; 0.0, 2.0); and family activities (12.5; 2.1, 25.0). From the children's' perspective, significant improvements were seen for role/social limitations-emotional at 3 (22.2; 11.1, 33.3) and 6 months (22.2; 11.1, 66.7) and global health at 6 months (35.0; 15.0, 55.0). There were no significant improvements in other concepts. Subcutaneous IgG treatment significantly reduced absence days, days spent on hospital/physician visits, and health-care-related expenses. CONCLUSION: Switching to home-based subcutaneous IgG treatment led to significant improvements in quality of life and substantial cost savings.
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| 36. |
- Fernandes, Juliana Folloni, et al.
(författare)
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Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
- 2018
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 38:8, s. 917-926
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Tidskriftsartikel (refereegranskat)abstract
- The results of hematopoietic stem cell transplant (HSCT) for primary immunodeficiency diseases (PID) have been improving over time. Unfortunately, developing countries do not experience the same results. This first report of Brazilian experience of HSCT for PID describes the development and results in the field. We included data from transplants in 221 patients, performed at 11 centers which participated in the Brazilian collaborative group, from July 1990 to December 2015. The majority of transplants were concentrated in one center (n = 123). The median age at HSCT was 22 months, and the most common diseases were severe combined immunodeficiency (SCID) (n = 67) and Wiskott-Aldrich syndrome (WAS) (n = 67). Only 15 patients received unconditioned transplants. Cumulative incidence of GVHD grades II to IV was 23%, and GVHD grades III to IV was 10%. The 5-year overall survival was 71.6%. WAS patients had better survival compared to other diseases. Most deaths (n = 53) occurred in the first year after transplantation mainly due to infection (55%) and GVHD (13%). Although transplant for PID patients in Brazil has evolved since its beginning, we still face some challenges like delayed diagnosis and referral, severe infections before transplant, a limited number of transplant centers with expertise, and resources for more advanced techniques. Measures like newborn screening for SCID may hasten the diagnosis and ameliorate patients' conditions at the moment of transplant.
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| 37. |
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| 38. |
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| 39. |
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| 40. |
- Geier, CB, et al.
(författare)
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Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
- 2022
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Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 42:8, s. 1748-1765
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Tidskriftsartikel (refereegranskat)abstract
- Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome (WS) is a combined immunodeficiency caused by gain-of-function mutations in the C-X-C chemokine receptor type 4 (CXCR4) gene. We characterize a unique international cohort of 66 patients, including 57 (86%) cases previously unreported, with variable clinical phenotypes. Of 17 distinct CXCR4 genetic variants within our cohort, 11 were novel pathogenic variants affecting 15 individuals (23%). All variants affect the same CXCR4 region and impair CXCR4 internalization resulting in hyperactive signaling. The median age of diagnosis in our cohort (5.5 years) indicates WHIM syndrome can commonly present in childhood, although some patients are not diagnosed until adulthood. The prevalence and mean age of recognition and/or onset of clinical manifestations within our cohort were infections 88%/1.6 years, neutropenia 98%/3.8 years, lymphopenia 88%/5.0 years, and warts 40%/12.1 years. However, we report greater prevalence and variety of autoimmune complications of WHIM syndrome (21.2%) than reported previously. Patients with versus without family history of WHIM syndrome were diagnosed earlier (22%, average age 1.3 years versus 78%, average age 5 years, respectively). Patients with a family history of WHIM syndrome also received earlier treatment, experienced less hospitalization, and had less end-organ damage. This observation reinforces previous reports that early treatment for WHIM syndrome improves outcomes. Only one patient died; death was attributed to complications of hematopoietic stem cell transplantation. The variable expressivity of WHIM syndrome in pediatric patients delays their diagnosis and therapy. Early-onset bacterial infections with severe neutropenia and/or lymphopenia should prompt genetic testing for WHIM syndrome, even in the absence of warts.
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