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2015 2
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Page 1
Germline mutations in a G protein identify signaling cross-talk in T cells.
Ham H, Jing H, Lamborn IT, Kober MM, Koval A, Berchiche YA, Anderson DE, Druey KM, Mandl JN, Isidor B, Ferreira CR, Freeman AF, Ganesan S, Karsak M, Mustillo PJ, Teo J, Zolkipli-Cunningham Z, Chatron N, Lecoquierre F, Oler AJ, Schmid JP, Kuhns DB, Xu X, Hauck F, Al-Herz W, Wagner M, Terhal PA, Muurinen M, Barlogis V, Cruz P, Danielson J, Stewart H, Loid P, Rading S, Keren B, Pfundt R, Zarember KA, Vill K, Potocki L, Olivier KN, Lesca G, Faivre L, Wong M, Puel A, Chou J, Tusseau M, Moutsopoulos NM, Matthews HF, Simons C, Taft RJ, Soldatos A, Masle-Farquhar E, Pittaluga S, Brink R, Fink DL, Kong HH, Kabat J, Kim WS, Bierhals T, Meguro K, Hsu AP, Gu J, Stoddard J, Banos-Pinero B, Slack M, Trivellin G, Mazel B, Soomann M, Li S, Watts VJ, Stratakis CA, Rodriguez-Quevedo MF, Bruel AL, Lipsanen-Nyman M, Saultier P, Jain R, Lehalle D, Torres D, Sullivan KE, Barbarot S, Neu A, Duffourd Y, Similuk M, McWalter K, Blanc P, Bézieau S, Jin T, Geha RS, Casanova JL, Makitie OM, Kubisch C, Edery P, Christodoulou J, Germain RN, Goodnow CC, Sakmar TP, Billadeau DD, Küry S, Katanaev VL, Zhang Y, Lenardo MJ, Su HC. Ham H, et al. Among authors: soomann m. Science. 2024 Sep 20;385(6715):eadd8947. doi: 10.1126/science.add8947. Epub 2024 Sep 20. Science. 2024. PMID: 39298586 Free PMC article.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO, Shcher… See abstract for full author list ➔ Maccari ME, et al. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899 Free article.
Ex vivo T-lymphopoiesis assays assisting corrective treatment choice for genetically undefined T-lymphocytopenia.
Golwala ZM, Spiridou Goncalves H, Moirangthem RD, Evans G, Lizot S, de Koning C, Garrigue A, Corredera MM, Ocampo-Godinez JM, Howley E, Kricke S, Awuah A, Obiri-Yeboa I, Rai R, Sebire N, Bernard F, Bordon Cueto De Braem V, Boztug K, Cole T, Gennery AR, Hackett S, Hambleton S, Holm M, Kusters MA, Klocperk A, Marzollo A, Marcus N, Nademi Z, Pachlopnik Schmid J, Pichler H, Sellmer A, Soler-Palacin P, Soomann M, Torpiano P, van Montfrans J, Nierkens S, Adams S, Buckland M, Gilmour K, Worth A, Thrasher AJ, Davies EG, André I, Kreins AY. Golwala ZM, et al. Among authors: soomann m. Clin Immunol. 2025 May;274:110453. doi: 10.1016/j.clim.2025.110453. Epub 2025 Feb 16. Clin Immunol. 2025. PMID: 39965724 Free article.
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
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.
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. 2025 Feb;155(2):377-386. doi: 10.1016/j.jaci.2024.10.018. Epub 2024 Nov 6. J Allergy Clin Immunol. 2025. PMID: 39510364 Free article. Review.
A Practical Guide to Diagnosing Immunodeficiency.
Soomann M, Worth A, Lawless D, Trück J. Soomann M, et al. Pediatr Infect Dis J. 2025 Oct 1;44(10):e374-e377. doi: 10.1097/INF.0000000000004904. Epub 2025 Jul 22. Pediatr Infect Dis J. 2025. PMID: 40720847 No abstract available.
IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency.
Körholz J, Tromp SAM, Dalm VASH, de Bie M, de Bree GJ, van Leeuwen EMM, Fraaij PLA, Jansen MH, Hollink IHIM, Nagelkerke SQ, Russ S, Scholze AK, Soomann M, Wiedemuth R, Pachlopnik Schmid J, Hanitsch LG, Schuetz C, Kuijpers TW, IJspeert H. Körholz J, et al. Among authors: soomann m. J Allergy Clin Immunol. 2025 Aug;156(2):279-293. doi: 10.1016/j.jaci.2025.04.033. Epub 2025 May 20. J Allergy Clin Immunol. 2025. PMID: 40403933 Free article.
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