The DOI matches its Crossref record; 41 of the 41 references it cites were found in a registry or an index.
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
Open accessAbstract
Familial hemophagocytic lymphohistiocytosis (FHL) is a life-threatening disorder of immune regulation caused by defects in lymphocyte cytotoxicity. Rapid differentiation of primary, genetic forms from secondary forms of hemophagocytic lymphohistiocytosis (HLH) is crucial for treatment decisions. We prospectively evaluated the performance of degranulation assays based on surface up-regulation of CD107a on natural killer (NK) cells and cytotoxic T lymphocytes in a cohort of 494 patients referred for evaluation for suspected HLH. Seventy-five of 77 patients (97%) with FHL3-5 and 11 of 13 patients (85%) with Griscelli syndrome type 2 or Chediak-Higashi syndrome had abnormal resting NK-cell degranulation. In contrast, NK-cell degranulation was normal in 14 of 16 patients (88%) with X-linked lymphoproliferative disease and in 8 of 14 patients (57%) with FHL2, who were identified by diminished intracellular SLAM-associated protein (SAP), X-linked inhibitor of apoptosis protein (XIAP), and perforin expression, respectively. Among 66 patients with a clinical diagnosis of secondary HLH, 13 of 59 (22%) had abnormal resting NK-cell degranulation, whereas 0 of 43 had abnormal degranulation using IL-2–activated NK cells. Active disease or immunosuppressive therapy did not impair the assay performance. Overall, resting NK-cell degranulation below 5% provided a 96% sensitivity for a genetic degranulation disorder and a specificity of 88%. Therefore, degranulation assays allow a rapid and reliable classification of patients, benefiting treatment decisions.
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Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis
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Self-citationMutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
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Ramos-Casals, M., Brito-Zerón, P., López-Guillermo, A., Khamashta, M. A., & Bosch, X. (2014) · The Lancet · doi:10.1016/s0140-6736(13)61048-x · Cited by 1,442
Prognostic Factors and Outcomes of Adults With Hemophagocytic Lymphohistiocytosis
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Castro, C. N., Rosenzwajg, M., Carapito, R., Shahrooei, M., Konantz, M., Khan, A., Miao, Z., Groß, M., Tranchant, T., Radosavljevic, M., et al. (2020) · Journal of Experimental Medicine · doi:10.1084/jem.20192275 · Cited by 91
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Metadata
- Authors
- Bryceson, Y. T., Pende, D., Maul-Pavicic, A., Gilmour, K. C., Ufheil, H., Vraetz, T., Chiang, S. C., Marcenaro, S., Meazza, R., Bondzio, I., Walshe, D., Janka, G., Lehmberg, K., Beutel, K., zur Stadt, U., Binder, N., Arico, M., Moretta, L., Henter, J.-I., & Ehl, S.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2012-03-22
- Volume
- 119
- Issue
- 12
- Pages
- 2754-2763
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2052632028
- Cited by
- 310
- References
- 41
- FWCI
- 16.90
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Bryceson, Y. T., Pende, D., Maul-Pavicic, A., Gilmour, K. C., Ufheil, H., Vraetz, T., Chiang, S. C., Marcenaro, S., Meazza, R., Bondzio, I., Walshe, D., Janka, G., Lehmberg, K., Beutel, K., zur Stadt, U., Binder, N., Arico, M., Moretta, L., Henter, J.-I., & Ehl, S. (2012). A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. https://doi.org/10.1182/blood-2011-08-374199
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