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Human TYK2 deficien...
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
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Kreins, AY (author)
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Ciancanelli, MJ (author)
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Okada, S (author)
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show more...
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Kong, XF (author)
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Ramirez-Alejo, N (author)
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Kilic, SS (author)
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El Baghdadi, J (author)
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Nonoyama, S (author)
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Mahdaviani, SA (author)
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Ailal, F (author)
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Bousfiha, A (author)
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Mansouri, D (author)
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Nievas, E (author)
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Ma, CS (author)
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Rao, G (author)
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Bernasconi, A (author)
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Kuehn, HS (author)
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Niemela, J (author)
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Stoddard, J (author)
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Deveau, P (author)
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Cobat, A (author)
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El Azbaoui, S (author)
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Sabri, A (author)
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- Lim, CK (author)
- Karolinska Institutet
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- Sundin, M (author)
- Karolinska Institutet
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Avery, DT (author)
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Halwani, R (author)
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Grant, AV (author)
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Boisson, B (author)
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Bogunovic, D (author)
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Itan, Y (author)
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Moncada-Velez, M (author)
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Martinez-Barricarte, R (author)
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Migaud, M (author)
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Deswarte, C (author)
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Alsina, L (author)
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Kotlarz, D (author)
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Klein, C (author)
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Muller-Fleckenstein, I (author)
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Fleckenstein, B (author)
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Cormier-Daire, V (author)
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Rose-John, S (author)
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Picard, C (author)
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- Hammarstrom, L (author)
- Karolinska Institutet
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Puel, A (author)
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Al-Muhsen, S (author)
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Abel, L (author)
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Chaussabel, D (author)
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Rosenzweig, SD (author)
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Minegishi, Y (author)
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Tangye, SG (author)
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Bustamante, J (author)
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Casanova, JL (author)
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Boisson-Dupuis, S (author)
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(creator_code:org_t)
- 2015-08-24
- 2015
- English.
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In: The Journal of experimental medicine. - : Rockefeller University Press. - 1540-9538 .- 0022-1007. ; 212:10, s. 1641-1662
- Related links:
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https://rupress.org/...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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- Autosomal recessive, complete TYK2 deficiency was previously described in a patient (P1) with intracellular bacterial and viral infections and features of hyper-IgE syndrome (HIES), including atopic dermatitis, high serum IgE levels, and staphylococcal abscesses. We identified seven other TYK2-deficient patients from five families and four different ethnic groups. These patients were homozygous for one of five null mutations, different from that seen in P1. They displayed mycobacterial and/or viral infections, but no HIES. All eight TYK2-deficient patients displayed impaired but not abolished cellular responses to (a) IL-12 and IFN-α/β, accounting for mycobacterial and viral infections, respectively; (b) IL-23, with normal proportions of circulating IL-17+ T cells, accounting for their apparent lack of mucocutaneous candidiasis; and (c) IL-10, with no overt clinical consequences, including a lack of inflammatory bowel disease. Cellular responses to IL-21, IL-27, IFN-γ, IL-28/29 (IFN-λ), and leukemia inhibitory factor (LIF) were normal. The leukocytes and fibroblasts of all seven newly identified TYK2-deficient patients, unlike those of P1, responded normally to IL-6, possibly accounting for the lack of HIES in these patients. The expression of exogenous wild-type TYK2 or the silencing of endogenous TYK2 did not rescue IL-6 hyporesponsiveness, suggesting that this phenotype was not a consequence of the TYK2 genotype. The core clinical phenotype of TYK2 deficiency is mycobacterial and/or viral infections, caused by impaired responses to IL-12 and IFN-α/β. Moreover, impaired IL-6 responses and HIES do not appear to be intrinsic features of TYK2 deficiency in humans.
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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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Kreins, AY
-
Ciancanelli, MJ
-
Okada, S
-
Kong, XF
-
Ramirez-Alejo, N
-
Kilic, SS
-
show more...
-
El Baghdadi, J
-
Nonoyama, S
-
Mahdaviani, SA
-
Ailal, F
-
Bousfiha, A
-
Mansouri, D
-
Nievas, E
-
Ma, CS
-
Rao, G
-
Bernasconi, A
-
Kuehn, HS
-
Niemela, J
-
Stoddard, J
-
Deveau, P
-
Cobat, A
-
El Azbaoui, S
-
Sabri, A
-
Lim, CK
-
Sundin, M
-
Avery, DT
-
Halwani, R
-
Grant, AV
-
Boisson, B
-
Bogunovic, D
-
Itan, Y
-
Moncada-Velez, M
-
Martinez-Barrica ...
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Migaud, M
-
Deswarte, C
-
Alsina, L
-
Kotlarz, D
-
Klein, C
-
Muller-Fleckenst ...
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Fleckenstein, B
-
Cormier-Daire, V
-
Rose-John, S
-
Picard, C
-
Hammarstrom, L
-
Puel, A
-
Al-Muhsen, S
-
Abel, L
-
Chaussabel, D
-
Rosenzweig, SD
-
Minegishi, Y
-
Tangye, SG
-
Bustamante, J
-
Casanova, JL
-
Boisson-Dupuis, ...
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show less...
- Articles in the publication
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The Journal of e ...
- By the university
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Karolinska Institutet