P779: LONG-TERM COURSE OF HAX1-RELATED CONGENITAL NEUTROPENIA: AN ANALYSIS OF THE EUROPEAN SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY (SCNIR)

Autor: Denys Pogozhykh, Deniz Yilmaz Karapinar, Maksim Klimiankou, Natali Gerschmann, Georg Ebetsberger-Dachs, Jan Palmblad, Göran Carlsson, Tania Masmas, Sally Kinsey, Marije Bartels, Sabine Mellor-Heineke, Karl Welte, Julia Skokowa, Cornelia Zeidler

Publikováno v: HemaSphere, Vol 7, p e462517e (2023)

Externí odkaz: https://doaj.org/article/2708135551d04a99a4f0b4d046c7f65a

HAX1 ‐related congenital neutropenia: Long‐term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry ( SCNIR )

Autor: Denys Pogozhykh, Deniz Yilmaz Karapinar, Maksim Klimiankou, Natali Gerschmann, Georg Ebetsberger‐Dachs, Jan Palmblad, Göran Carlsson, Tania Masmas, Sally Kinsey, Marije Bartels, Sabine Mellor‐Heineke, Karl Welte, Julia Skokowa, Cornelia Zeidler

Publikováno v: British Journal of Haematology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e85c3e552c1b4759c3ecdaccd4974529
https://doi.org/10.1111/bjh.18840

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

Autor: Christopher J.A. Duncan, Morten K. Skouboe, Sophie Howarth, Anne K. Hollensen, Rui Chen, Malene L. Børresen, Benjamin J. Thompson, Jarmila Stremenova Spegarova, Catherine F. Hatton, Frederik F. Stæger, Mette K. Andersen, John Whittaker, Søren R. Paludan, Sofie E. Jørgensen, Martin K. Thomsen, Jacob G. Mikkelsen, Carsten Heilmann, Daniela Buhas, Nina F. Øbro, Jakob T. Bay, Hanne V. Marquart, M. Teresa de la Morena, Joseph A. Klejka, Matthew Hirschfeld, Line Borgwardt, Isabel Forss, Tania Masmas, Anja Poulsen, Francisco Noya, Guy Rouleau, Torben Hansen, Sirui Zhou, Anders Albrechtsen, Reza Alizadehfar, Eric J. Allenspach, Sophie Hambleton, Trine H. Mogensen

Publikováno v: Duncan, C J A, Skouboe, M K, Howarth, S, Hollensen, A K, Chen, R, Børresen, M L, Thompson, B J, Spegarova, J S, Hatton, C F, Stæger, F F, Andersen, M K, Whittaker, J, Paludan, S R, Jørgensen, S E, Thomsen, M K, Mikkelsen, J G, Heilmann, C, Buhas, D, Øbro, N F, Bay, J T, Marquart, H V, Morena, M T D L, Klejka, J A, Hirschfeld, M, Borgwardt, L, Forss, I, Masmas, T, Poulsen, A, Noya, F, Rouleau, G, Hansen, T, Zhou, S, Albrechtsen, A, Alizadehfar, R, Allenspach, E J, Hambleton, S & Mogensen, T H 2022, ' Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic ', Journal of Experimental Medicine, vol. 219, no. 6, e20212427 . https://doi.org/10.1084/jem.20212427
Duncan, C J A, Skouboe, M K, Howarth, S, Hollensen, A K, Chen, R, Børresen, M L, Thompson, B J, Stremenova Spegarova, J, Hatton, C F, Stæger, F F, Andersen, M K, Whittaker, J, Paludan, S R, Jørgensen, S E, Thomsen, M K, Mikkelsen, J G, Heilmann, C, Buhas, D, Øbro, N F, Bay, J T, Marquart, H V, de la Morena, M T, Klejka, J A, Hirschfeld, M, Borgwardt, L, Forss, I, Masmas, T, Poulsen, A, Noya, F, Rouleau, G, Hansen, T, Zhou, S, Albrechtsen, A, Alizadehfar, R, Allenspach, E J, Hambleton, S & Mogensen, T H 2022, ' Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic ', The Journal of Experimental Medicine, vol. 219, no. 6, e20212427 . https://doi.org/10.1084/jem.20212427

Type I interferons (IFN-I) play a critical role in human antiviral immunity, as demonstrated by the exceptionally rare deleterious variants of IFNAR1 or IFNAR2. We investigated five children from Greenland, Canada, and Alaska presenting with viral di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e0e93df69405efb9dfa8932bb4d0da2
https://curis.ku.dk/portal/da/publications/lifethreatening-viral-disease-in-a-novel-form-of-autosomal-recessive-ifnar2-deficiency-in-the-arctic(38e5d906-7ed0-4521-981d-02d7dbdab48d).html

10Haematopoietic cell transplantation with non-myeloablative conditioning in Denmark: Disease-specific outcome, complications and hospitalization requirements of the first 100 transplants

Autor: Brian Kornblit, Tania Masmas, Hans O. Madsen, Lars P. Ryder, Arne Svejgaard, Bodil Jakobsen, Henrik Sengeløv, Gitte Olesen, Carsten Heilmann, Ebbe Dickmeiss, Søren Lykke Petersen, Lars Vindeløv

Publikováno v: APMIS. 116:422-422

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e61fff04328dbc671baff2e18f4806cb
https://doi.org/10.1111/j.1600-0463.2008.001165_22.x