| 61. |
|
|
| 62. |
|
|
| 63. |
|
|
| 64. |
|
|
| 65. |
|
|
| 66. |
- Gardulf, A, et al.
(författare)
-
University PID/SID Education for Nurses
- 2014
-
Ingår i: JOURNAL OF CLINICAL IMMUNOLOGY. - 0271-9142. ; 34, s. S506-S506
-
Konferensbidrag (övrigt vetenskapligt/konstnärligt)
|
|
| 67. |
|
|
| 68. |
- Geier, CB, et al.
(författare)
-
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
- 2022
-
Ingår i: Journal of clinical immunology. - : Springer Science and Business Media LLC. - 1573-2592 .- 0271-9142. ; 42:8, s. 1748-1765
-
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.
|
|
| 69. |
|
|
| 70. |
- Gong, J, et al.
(författare)
-
Tubing loops as a model for cardiopulmonary bypass circuits : both the biomaterial and the blood-gas phase interfaces induce complement activation in an in vitro model.
- 1996
-
Ingår i: Journal of Clinical Immunology. - 0271-9142 .- 1573-2592. ; 16:4, s. 222-223
-
Tidskriftsartikel (refereegranskat)abstract
- We describe here a model for the study of blood/surface and blood/air interaction as encountered in cardiopulmonary bypass (CPB) circuits. Polyethylene tubing was filled with serum or blood and closed end to end into loops whereby the volume of the remaining air bubble was inversely varied with respect to that of the fluid. The loops were rotated vertically in a water bath at 37 degrees C. The profiles of C3a, iC3, and TCC generation were similar to those observed at surgery, involving CPB. Soluble heparin and heparan sulfate inhibited both C3a and TCC formation, but surface-conjugated heparin had only a minor effect. Binding of C3 and/or C3 fragments to the heparin surface was much reduced compared to the amine matrix to which heparin was linked, but compared with the polyethylene surface the effect was less pronounced. These data suggest that, in addition to the biomaterial surface, the blood-gas interface seems to play an important role in the activation of complement and that this activation is inhibitable by high concentrations of soluble glucose aminoglycans.
|
|
