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18 results

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Newborn screening for SCID and severe T lymphocytopenia in Europe.
Blom M, Soomann M, Soler-Palacín P, Šedivá A, Stray-Pedersen A, Zetterström R, Speckmann C, Gennery AR, van der Burg M. Blom M, et al. Among authors: soomann m. J Allergy Clin Immunol. 2024 Nov 6:S0091-6749(24)01162-X. doi: 10.1016/j.jaci.2024.10.018. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39510364 Free article. Review.
Impact of newborn screening for SCID on the management of congenital athymia.
Howley E, Golwala Z, Buckland M, Barzaghi F, Ghosh S, Hackett S, Hague R, Hauck F, Holzer U, Klocperk A, Koskenvuo M, Marcus N, Marzollo A, Pac M, Sinclair J, Speckmann C, Soomann M, Speirs L, Suresh S, Taque S, van Montfrans J, von Bernuth H, Wainstein BK, Worth A, Davies EG, Kreins AY. Howley E, et al. Among authors: soomann m. J Allergy Clin Immunol. 2024 Jan;153(1):330-334. doi: 10.1016/j.jaci.2023.08.031. Epub 2023 Sep 9. J Allergy Clin Immunol. 2024. PMID: 37678573 Free PMC article.
Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia.
Soomann M, Bily V, Elgizouli M, Kraemer D, Akgül G, von Bernuth H, Bloomfield M, Brodszki N, Candotti F, Förster-Waldl E, Freiberger T, Giżewska M, Klocperk A, Kölsch U, Nichols KE, Krüger R, Oak N, Pac M, Prader S, Schmiegelow K, Šedivá A, Sogkas G, Stittrich A, Stoltze UK, Theodoropoulou K, Wadt K, Wong M, Zeyda M, Pachlopnik Schmid J, Trück J. Soomann M, et al. J Allergy Clin Immunol. 2024 Nov;154(5):1313-1324.e7. doi: 10.1016/j.jaci.2024.08.002. Epub 2024 Aug 13. J Allergy Clin Immunol. 2024. PMID: 39147326 Free article. Review.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, Jakob M, Sparber-Sauer M, Kager L, Puzik A, Wolkewitz M, Lorenz MR, Schwarz K, Speckmann C, Rensing-Ehl A, Ehl S; ALPID study group. Hägele P, et al. Lancet Haematol. 2024 Feb;11(2):e114-e126. doi: 10.1016/S2352-3026(23)00362-9. Lancet Haematol. 2024. PMID: 38302222
18 results