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Human TYK2 deficien...
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
- Article/chapterEnglish2015
Publisher, publication year, extent ...
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2015-08-24
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Rockefeller University Press,2015
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LIBRIS-ID:oai:prod.swepub.kib.ki.se:132432313
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http://kipublications.ki.se/Default.aspx?queryparsed=id:132432313URI
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https://doi.org/10.1084/jem.20140280DOI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
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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.
Added entries (persons, corporate bodies, meetings, titles ...)
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Ciancanelli, MJ
(author)
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Okada, S
(author)
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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, CKKarolinska Institutet
(author)
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Sundin, MKarolinska Institutet
(author)
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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, LKarolinska Institutet
(author)
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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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Karolinska Institutet
(creator_code:org_t)
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In:The Journal of experimental medicine: Rockefeller University Press212:10, s. 1641-16621540-95380022-1007
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Kreins, AY
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Ciancanelli, MJ
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Okada, S
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Kong, XF
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Ramirez-Alejo, N
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El Baghdadi, J
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Nonoyama, S
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Mahdaviani, SA
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Nievas, E
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Ma, CS
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Rao, G
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Bernasconi, A
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Kuehn, HS
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Niemela, J
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Stoddard, J
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Deveau, P
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Cobat, A
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El Azbaoui, S
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Sabri, A
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Lim, CK
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Sundin, M
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Avery, DT
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Halwani, R
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Grant, AV
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Boisson, B
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Bogunovic, D
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Itan, Y
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Moncada-Velez, M
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Fleckenstein, B
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Al-Muhsen, S
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