The DOI matches its Crossref record; 45 of the 45 references it cites were found in a registry or an index.
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
Open accessAbstract
We report the clinical description and molecular dissection of a new fatal human inherited disorder characterized by chronic autoinflammation, invasive bacterial infections and muscular amylopectinosis. Patients from two kindreds carried biallelic loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1), a component of the linear ubiquitination chain assembly complex (LUBAC). These mutations resulted in impairment of LUBAC stability. NF-κB activation in response to interleukin 1β (IL-1β) was compromised in the patients' fibroblasts. By contrast, the patients' mononuclear leukocytes, particularly monocytes, were hyper-responsive to IL-1β. The consequences of human HOIL-1 and LUBAC deficiencies for IL-1β responses thus differed between cell types, consistent with the unique association of autoinflammation and immunodeficiency in these patients. These data suggest that LUBAC regulates NF-κB–dependent IL-1β responses differently in different cell types.
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Metadata
- Authors
- Boisson, B., Laplantine, E., Prando, C., Giliani, S., Israelsson, E., Xu, Z., Abhyankar, A., Israël, L., Trevejo-Nunez, G., Bogunovic, D., Cepika, A.-M., MacDuff, D., Chrabieh, M., Hubeau, M., Bajolle, F., Debré, M., Mazzolari, E., Vairo, D., Agou, F., Virgin, H. W., Bossuyt, X., Rambaud, C., Facchetti, F., Bonnet, D., Quartier, P., Fournet, J.-C., Pascual, V., Chaussabel, D., Notarangelo, L. D., Puel, A., Israël, A., Casanova, J.-L., & Picard, C.
- Venue
- Nature Immunology
- Published
- 2012-10-28
- Volume
- 13
- Issue
- 12
- Pages
- 1178-1186
- ISSN
- 1529-2908 (ISSN-L)
- 1529-2916
- OpenAlex
- W2170072500
- Cited by
- 474
- References
- 45
- FWCI
- 14.05
- Type
- journal article
- Language
- en
- Open access
- green
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- Boisson, B., Laplantine, E., Prando, C., Giliani, S., Israelsson, E., Xu, Z., Abhyankar, A., Israël, L., Trevejo-Nunez, G., Bogunovic, D., Cepika, A.-M., MacDuff, D., Chrabieh, M., Hubeau, M., Bajolle, F., Debré, M., Mazzolari, E., Vairo, D., Agou, F., . . . Picard, C. (2012). Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nature Immunology. https://doi.org/10.1038/ni.2457
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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