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Combined immunodefi...
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency
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- Abolhassani, H (author)
- Karolinska Institutet
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Edwards, ESJ (author)
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Ikinciogullari, A (author)
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Jing, HE (author)
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- Borte, S (author)
- Karolinska Institutet
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- Buggert, M (author)
- Karolinska Institutet
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- Du, LK (author)
- Karolinska Institutet
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Matsuda-Lennikov, M (author)
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Romano, R (author)
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- Caridha, R (author)
- Karolinska Institutet
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Bade, S (author)
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Zhang, Y (author)
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Frederiksen, J (author)
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- Fang, MY (author)
- Karolinska Institutet
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Bal, SK (author)
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Haskologlu, S (author)
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Dogu, F (author)
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Tacyildiz, N (author)
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Matthews, HF (author)
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McElwee, JJ (author)
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Gostick, E (author)
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Price, DA (author)
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Palendira, U (author)
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Aghamohammadi, A (author)
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Boisson, B (author)
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Rezaei, N (author)
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- Karlsson, AC (author)
- Karolinska Institutet
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Lenardo, MJ (author)
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Casanova, JL (author)
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- Hammarstrom, L (author)
- Karolinska Institutet
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Tangye, SG (author)
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Su, HC (author)
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- Pan-Hammarstrom, Q (author)
- Karolinska Institutet
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(creator_code:org_t)
- 2016-12-23
- 2017
- English.
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In: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 214:1, s. 91-106
- Related links:
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https://doi.org/10.1...
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Abstract
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- In this study, we describe four patients from two unrelated families of different ethnicities with a primary immunodeficiency, predominantly manifesting as susceptibility to Epstein-Barr virus (EBV)–related diseases. Three patients presented with EBV-associated Hodgkin’s lymphoma and hypogammaglobulinemia; one also had severe varicella infection. The fourth had viral encephalitis during infancy. Homozygous frameshift or in-frame deletions in CD70 in these patients abolished either CD70 surface expression or binding to its cognate receptor CD27. Blood lymphocyte numbers were normal, but the proportions of memory B cells and EBV-specific effector memory CD8+ T cells were reduced. Furthermore, although T cell proliferation was normal, in vitro–generated EBV-specific cytotoxic T cell activity was reduced because of CD70 deficiency. This reflected impaired activation by, rather than effects during killing of, EBV-transformed B cells. Notably, expression of 2B4 and NKG2D, receptors implicated in controlling EBV infection, on memory CD8+ T cells from CD70-deficient individuals was reduced, consistent with their impaired killing of EBV-infected cells. Thus, autosomal recessive CD70 deficiency is a novel cause of combined immunodeficiency and EBV-associated diseases, reminiscent of inherited CD27 deficiency. Overall, human CD70–CD27 interactions therefore play a nonredundant role in T and B cell–mediated immunity, especially for protection against EBV and humoral immunity.
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- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Abolhassani, H
-
Edwards, ESJ
-
Ikinciogullari, ...
-
Jing, HE
-
Borte, S
-
Buggert, M
-
show more...
-
Du, LK
-
Matsuda-Lennikov ...
-
Romano, R
-
Caridha, R
-
Bade, S
-
Zhang, Y
-
Frederiksen, J
-
Fang, MY
-
Bal, SK
-
Haskologlu, S
-
Dogu, F
-
Tacyildiz, N
-
Matthews, HF
-
McElwee, JJ
-
Gostick, E
-
Price, DA
-
Palendira, U
-
Aghamohammadi, A
-
Boisson, B
-
Rezaei, N
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Karlsson, AC
-
Lenardo, MJ
-
Casanova, JL
-
Hammarstrom, L
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Tangye, SG
-
Su, HC
-
Pan-Hammarstrom, ...
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show less...
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The Journal of e ...
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Karolinska Institutet