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- Chiang, S. C. C., et al.
(författare)
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Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production
- 2013
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Ingår i: Blood. - : American Society of Hematology. - 0006-4971 .- 1528-0020. ; 121:8, s. 1345-1356
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Tidskriftsartikel (refereegranskat)abstract
- Cytotoxic lymphocytes, encompassing cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells, kill pathogen-infected, neoplastic, or certain hematopoietic cells through the release of perforin-containing lytic granules. In the present study, we first performed probability-state modeling of differentiation and lytic granule markers on CD8(+) T cells to enable the comparison of bona fide CTLs with NK cells. Analysis identified CD57(bright) expression as a reliable phenotype of granule marker-containing CTLs. We then compared CD3(+)CD8(+)CD57(bright) CTLs with NK cells. Healthy adult peripheral blood CD3(+)CD8(+)CD57(bright) CTLs expressed more granzyme B but less perforin than CD3(-)CD56(dim) NK cells. On stimulation, such CTLs degranulated more readily than other T-cell subsets, but had a propensity to degranulate that was similar to NK cells. Remarkably, the CTLs produced cytokines more rapidly and with greater frequency than NK cells. In patients with biallelic mutations in UNC13D, STX11, or STXBP2 associated with familial hemophagocytic lymphohistiocytosis, CTL and NK cell degranulation were similarly impaired. Therefore, cytotoxic lymphocyte subsets have similar requirements for Munc13-4, syntaxin-11, and Munc18-2 in lytic granule exocytosis. The present results provide a detailed comparison of human CD3(+)CD8(+)CD57(bright) CTLs and NK cells and suggest that analysis of CD57(bright) CTL function may prove useful in the diagnosis of primary immunodeficiencies including familial hemophagocytic lymphohistiocytosis.
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- Schetelig, J, et al.
(författare)
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Data quality initiative in CLL
- 2012
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Ingår i: BONE MARROW TRANSPLANTATION. - 0268-3369. ; 47, s. S35-S35
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)
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- Andreasson, M, et al.
(författare)
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Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series
- 2019
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Ingår i: Scientific reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9:1, s. 15358-
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Tidskriftsartikel (refereegranskat)abstract
- Polyneuropathy (PNP) has been reported to be a possible phenotypic feature in Gaucher disease type 1 (GD1), while less is known about PNP in type 3 (GD3). We performed a cross-sectional study, exploring PNP in a Swedish GD cohort. Clinical assessment and blood biochemistry were carried out in 8 patients with GD1 and 11 patients with GD3. In patients with symptoms or clinical findings indicative of PNP, nerve conduction studies and quantitative sensory testing were performed. Assessments were compared to historic controls. A subclinical small fiber neuropathy (SFN) was demonstrated in 2 of 8 patients in the significantly (p = 0,021) older GD1 cohort. A large fiber PNP was evident in an additional 3 GD1 patients but could not be ascribed as disease manifestation. No GD3 patients exhibited neurophysiological evidence of small or large fiber PNP attributed to GD3. Compared to historic controls, no significant group differences were evident with regard to neuropathy rating scores. In summary, our study does not support large fiber PNP as a prevalent manifestation of GD. SFN is a possible feature in GD1, although small sample size limits definite conclusions. Our study provides novel data, arguing against clinically significant small or large fiber PNP in GD3.
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- Hertz, E., et al.
(författare)
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First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L
- 2019
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Ingår i: Movement Disorders Clinical Practice. - : Wiley. - 2330-1619. ; 6:3, s. 254-258
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Tidskriftsartikel (refereegranskat)abstract
- Background Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of GBA are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of GBA-related PD has been challenging, in part attributed to differential impact of distinct GBA mutations. Aim To provide a phenotypic description of two patients with PD heterozygous for the GBA mutation S107L. The S107L mutation is located in the catalytic domain of glucocerebrosidase and has not previously been reported in patients with PD. Methods Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing. Results Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS. Conclusions In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS.
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- Machaczka, M, et al.
(författare)
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Eosinophilia as a presenting symptom of the metastatic lung adenocarcinoma with an unknown primary localization
- 2011
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Ingår i: CENTRAL EUROPEAN JOURNAL OF MEDICINE. - : Walter de Gruyter GmbH. - 1895-1058. ; 6:5, s. 541-544
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Apparent hematological symptoms rarely dominate the clinical picture of an underlying non-hematological malignancy. Malignancy-associated eosinophilia can result from clonal or non-clonal proliferation of eosinophils. Here, we report the case of a 59-year-old man with metastatic adenocarcinoma of the lung with an unknown primary tumor site, which presented as hypereosinophilia, anemia, lymphadenopathy, weight loss, and malaise. Bone marrow biopsy disclosed metastatic adenocarcinoma positive in immunohistochemistry for cytokeratin 7. Further assessment of specimens obtained from the bronchoalveolar lavage and biopsy of the mediastinal lymph nodes confirmed the diagnosis of the metastatic lung cancer, although the primary tumor site remained undiscovered. This case underlines that eosinophilia may represent a rare primary manifestation of an undetected malignancy, and it is thus important to consider this as part of the differential diagnosis in patients presenting with unexplained eosinophilia.
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- Machaczka, M, et al.
(författare)
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Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease
- 2012
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Ingår i: Advances in Medical Sciences. - : Elsevier BV. - 1896-1126 .- 1898-4002. ; 57:1, s. 169-173
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Tidskriftsartikel (refereegranskat)abstract
- Cutaneous leukocytoclastic vasculitis (CLV) is a necrotizing inflammation of the small vessels in the dermis. We report the case of a Swedish man with an untreated N370S/L444P Gaucher disease who developed CLV at the age of 79 years. The patient has been treated for CLV with topical and oral corticosteroids, moisturizing agents, and periodically with antibiotics for 3 years without improvement. Administration of miglustat (N-butyldeoxynojirimycin; Zavesca®) because of progress of Gaucher disease resulted in a prompt and durable cure of the CLV.
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| 48. |
- Malinowska, I, et al.
(författare)
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Hemophagocytic syndrome in children and adults
- 2014
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Ingår i: Archivum immunologiae et therapiae experimentalis. - : Springer Science and Business Media LLC. - 1661-4917 .- 0004-069X. ; 62:5, s. 385-394
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Tidskriftsartikel (refereegranskat)
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- Mehta, A, et al.
(författare)
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Corrigendum
- 2019
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Ingår i: Internal medicine journal. - : Wiley. - 1445-5994 .- 1444-0903. ; 49:8, s. 1059-1059
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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