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Primary immunodeficiency associated with chromosomal aberration - an ESID survey.
Schatorjé E, van der Flier M, Seppänen M, Browning M, Morsheimer M, Henriet S, Neves JF, Vinh DC, Alsina L, Grumach A, Soler-Palacin P, Boyce T, Celmeli F, Goudouris E, Hayman G, Herriot R, Förster-Waldl E, Seidel M, Simons A, de Vries E. Schatorjé E, et al. Orphanet J Rare Dis. 2016 Aug 2;11(1):110. doi: 10.1186/s13023-016-0492-1. Orphanet J Rare Dis. 2016. PMID: 27484815 Free PMC article.
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27.
Salzer E, Daschkey S, Choo S, Gombert M, Santos-Valente E, Ginzel S, Schwendinger M, Haas OA, Fritsch G, Pickl WF, Förster-Waldl E, Borkhardt A, Boztug K, Bienemann K, Seidel MG. Salzer E, et al. Haematologica. 2013 Mar;98(3):473-8. doi: 10.3324/haematol.2012.068791. Epub 2012 Jul 16. Haematologica. 2013. PMID: 22801960 Free PMC article.
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.
Salzer E, Santos-Valente E, Klaver S, Ban SA, Emminger W, Prengemann NK, Garncarz W, Müllauer L, Kain R, Boztug H, Heitger A, Arbeiter K, Eitelberger F, Seidel MG, Holter W, Pollak A, Pickl WF, Förster-Waldl E, Boztug K. Salzer E, et al. Blood. 2013 Apr 18;121(16):3112-6. doi: 10.1182/blood-2012-10-460741. Epub 2013 Jan 14. Blood. 2013. PMID: 23319571 Free PMC article.
A novel immunodeficiency syndrome associated with partial trisomy 19p13.
Seidel MG, Duerr C, Woutsas S, Schwerin-Nagel A, Sadeghi K, Neesen J, Uhrig S, Santos-Valente E, Pickl WF, Schwinger W, Urban C, Boztug K, Förster-Waldl E. Seidel MG, et al. J Med Genet. 2014 Apr;51(4):254-63. doi: 10.1136/jmedgenet-2013-102122. Epub 2014 Jan 15. J Med Genet. 2014. PMID: 24431329 Free PMC article.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260 Free article.
57 results