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Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Eigemann J, Janda A, Schuetz C, Lee-Kirsch MA, Schulz A, Hoenig M, Furlan I, Jacobsen EM, Zinngrebe J, Peters S, Drewes C, Siebert R, Rump EM, Führer M, Lorenz M, Pannicke U, Kölsch U, Debatin KM, von Bernuth H, Schwarz K, Felgentreff K. Eigemann J, et al. Among authors: lorenz m. J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. J Clin Immunol. 2024. PMID: 39264518 Free PMC article.
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.
Heller S, Kölsch U, Magg T, Krüger R, Scheuern A, Schneider H, Eichinger A, Wahn V, Unterwalder N, Lorenz M, Schwarz K, Meisel C, Schulz A, Hauck F, von Bernuth H. Heller S, et al. Among authors: lorenz m. J Clin Immunol. 2020 Apr;40(3):421-434. doi: 10.1007/s10875-019-00728-y. Epub 2020 Jan 21. J Clin Immunol. 2020. PMID: 31965418
Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies.
Krüger R, Baumann U, Borte S, Kölsch U, Lorenz MR, Keller B, Harder I, Warnatz K, Ehl S, Schwarz K, Wahn V, von Bernuth H. Krüger R, et al. Scand J Immunol. 2020 Jan;91(1):e12811. doi: 10.1111/sji.12811. Epub 2019 Oct 30. Scand J Immunol. 2020. PMID: 31378960 Free article.
Compound heterozygous variants in OTULIN are associated with fulminant atypical late-onset ORAS.
Zinngrebe J, Moepps B, Monecke T, Gierschik P, Schlichtig F, Barth TFE, Strauß G, Boldrin E, Posovszky C, Schulz A, Beringer O, Rieser E, Jacobsen EM, Lorenz MR, Schwarz K, Pannicke U, Walczak H, Niessing D, Schuetz C, Fischer-Posovszky P, Debatin KM. Zinngrebe J, et al. EMBO Mol Med. 2022 Mar 7;14(3):e14901. doi: 10.15252/emmm.202114901. Epub 2022 Feb 16. EMBO Mol Med. 2022. PMID: 35170849 Free PMC article.
Septic arthritis or juvenile idiopathic arthritis--the case of a 2 year old boy.
Kallinich T, Kölsch U, Lieber M, Unterwalder N, Spors B, Lorenz M, Schwarz K, Meisel C, von Bernuth H. Kallinich T, et al. Among authors: lorenz m. Pediatr Allergy Immunol. 2015 Jun;26(4):389-91. doi: 10.1111/pai.12373. Epub 2015 Apr 24. Pediatr Allergy Immunol. 2015. PMID: 25865658 No abstract available.
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
Maccari ME, Schneider P, Smulski CR, Meinhardt A, Pinto F, Gonzalez-Granado LI, Schuetz C, Sica MP, Gross M, Fuchs I, Kury P, Heeg M, Vocat T, Willen L, Thomas C, Hühn R, Magerus A, Lorenz M, Schwarz K, Rieux-Laucat F, Ehl S, Rensing-Ehl A. Maccari ME, et al. Among authors: lorenz m. J Allergy Clin Immunol. 2023 May;151(5):1391-1401.e7. doi: 10.1016/j.jaci.2022.11.028. Epub 2023 Jan 5. J Allergy Clin Immunol. 2023. PMID: 36621650
Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Fuchs S, Rensing-Ehl A, Erlacher M, Vraetz T, Hartjes L, Janda A, Rizzi M, Lorenz MR, Gilmour K, de Saint-Basile G, Roifman CM, Cheuk S, Gennery A, Thrasher AJ, Fuchs I, Schwarz K, Speckmann C, Ehl S. Fuchs S, et al. Among authors: lorenz mr. Eur J Immunol. 2014 Oct;44(10):3129-40. doi: 10.1002/eji.201444689. Epub 2014 Aug 28. Eur J Immunol. 2014. PMID: 25042067 Free article.
Dataset of clinical, immunohistopathological and laboratory features of patients with MHC II deficiency suffering from enteropathy.
Posovszky C, Sirin M, Jacobsen E, Lorenz M, Schwarz K, Schmidt-Choudhury A, Schütz C, Hönig M, Debatin KM, Schulz A, Möller P, Barth TF. Posovszky C, et al. Among authors: lorenz m. Data Brief. 2019 Aug 28;26:104446. doi: 10.1016/j.dib.2019.104446. eCollection 2019 Oct. Data Brief. 2019. PMID: 31516959 Free PMC article.
1,006 results