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Early-onset autoimmunity associated with SOCS1 haploinsufficiency.
Hadjadj J, Castro CN, Tusseau M, Stolzenberg MC, Mazerolles F, Aladjidi N, Armstrong M, Ashrafian H, Cutcutache I, Ebetsberger-Dachs G, Elliott KS, Durieu I, Fabien N, Fusaro M, Heeg M, Schmitt Y, Bras M, Knight JC, Lega JC, Lesca G, Mathieu AL, Moreews M, Moreira B, Nosbaum A, Page M, Picard C, Ronan Leahy T, Rouvet I, Ryan E, Sanlaville D, Schwarz K, Skelton A, Viallard JF, Viel S, Villard M, Callebaut I, Picard C, Walzer T, Ehl S, Fischer A, Neven B, Belot A, Rieux-Laucat F. Hadjadj J, et al. Among authors: heeg m. Nat Commun. 2020 Oct 21;11(1):5341. doi: 10.1038/s41467-020-18925-4. Nat Commun. 2020. PMID: 33087723 Free PMC article.
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.
Klemann C, Ammann S, Heizmann M, Fuchs S, Bode SF, Heeg M, Fuchs H, Lehmberg K, Zur Stadt U, Roll C, Vraetz T, Speckmann C, Lorenz MR, Schwarz K, Rohr J, Feske S, Ehl S. Klemann C, et al. Among authors: heeg m. J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19. J Allergy Clin Immunol. 2017. PMID: 28633876 Free PMC article. No abstract available.
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Among authors: heeg m. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies.
Ammann S, Fuchs S, Martin-Martin L, Castro CN, Spielberger B, Klemann C, Elling R, Heeg M, Speckmann C, Hainmann I, Kaiser-Labusch P, Horneff G, Thalhammer J, Bredius RG, Stadt UZ, Lehmberg K, Fuchs I, von Spee-Mayer C, Henneke P, Ehl S. Ammann S, et al. Among authors: heeg m. J Allergy Clin Immunol. 2020 Jan;145(1):434-437.e4. doi: 10.1016/j.jaci.2019.09.002. Epub 2019 Sep 14. J Allergy Clin Immunol. 2020. PMID: 31526803 No abstract available.
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.
Jägle S, Heeg M, Grün S, Rensing-Ehl A, Maccari ME, Klemann C, Jones N, Lehmberg K, Bettoni C, Warnatz K, Grimbacher B, Biebl A, Schauer U, Hague R, Neth O, Mauracher A, Pachlopnik Schmid J, Fabre A, Kostyuchenko L, Führer M, Lorenz MR, Schwarz K, Rohr J, Ehl S. Jägle S, et al. Among authors: heeg m. Clin Immunol. 2020 Jan;210:108316. doi: 10.1016/j.clim.2019.108316. Epub 2019 Nov 23. Clin Immunol. 2020. PMID: 31770611
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.
Maccari ME, Fuchs S, Kury P, Andrieux G, Völkl S, Bengsch B, Lorenz MR, Heeg M, Rohr J, Jägle S, Castro CN, Groß M, Warthorst U, König C, Fuchs I, Speckmann C, Thalhammer J, Kapp FG, Seidel MG, Dückers G, Schönberger S, Schütz C, Führer M, Kobbe R, Holzinger D, Klemann C, Smisek P, Owens S, Horneff G, Kolb R, Naumann-Bartsch N, Miano M, Staniek J, Rizzi M, Kalina T, Schneider P, Erxleben A, Backofen R, Ekici A, Niemeyer CM, Warnatz K, Grimbacher B, Eibel H, Mackensen A, Frei AP, Schwarz K, Boerries M, Ehl S, Rensing-Ehl A. Maccari ME, et al. Among authors: heeg m. J Exp Med. 2021 Feb 1;218(2):e20192191. doi: 10.1084/jem.20192191. J Exp Med. 2021. PMID: 33170215 Free PMC article.
STAT3-confusion-of-function: Beyond the loss and gain dualism.
Lodi L, Faletti LE, Maccari ME, Consonni F, Groß M, Pagnini I, Ricci S, Heeg M, Simonini G, Azzari C, Ehl S. Lodi L, et al. Among authors: heeg m. J Allergy Clin Immunol. 2022 Nov;150(5):1237-1241.e3. doi: 10.1016/j.jaci.2022.06.007. Epub 2022 Jun 21. J Allergy Clin Immunol. 2022. PMID: 35750105
184 results