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Year Number of Results
2006 1
2007 3
2008 2
2012 1
2015 1
2017 1
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2019 9
2020 9
2021 12
2022 5
2023 8
2024 2

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51 results

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Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: rohlfs m. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.
Lanz AL, Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, Rohlfs M, Ley-Zaporozhan J, Walz C, Kotlarz D, Klein C, Albert MH, Hauck F. Lanz AL, et al. Among authors: rohlfs m. Clin Immunol. 2021 Aug;229:108779. doi: 10.1016/j.clim.2021.108779. Epub 2021 Jun 8. Clin Immunol. 2021. PMID: 34116213
Human MD2 deficiency-an inborn error of immunity with pleiotropic features.
Li Y, Yu Z, Schenk M, Lagovsky I, Illig D, Walz C, Rohlfs M, Conca R, Muise AM, Snapper SB, Uhlig HH, Garty BZ, Klein C, Kotlarz D. Li Y, et al. Among authors: rohlfs m. J Allergy Clin Immunol. 2023 Mar;151(3):791-796.e7. doi: 10.1016/j.jaci.2022.09.033. Epub 2022 Nov 30. J Allergy Clin Immunol. 2023. PMID: 36462957
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Linder MI, Mizoguchi Y, Hesse S, Csaba G, Tatematsu M, Łyszkiewicz M, Ziȩtara N, Jeske T, Hastreiter M, Rohlfs M, Liu Y, Grabowski P, Ahomaa K, Maier-Begandt D, Schwestka M, Pazhakh V, Isiaku AI, Briones Miranda B, Blombery P, Saito MK, Rusha E, Alizadeh Z, Pourpak Z, Kobayashi M, Rezaei N, Unal E, Hauck F, Drukker M, Walzog B, Rappsilber J, Zimmer R, Lieschke GJ, Klein C. Linder MI, et al. Among authors: rohlfs m. Blood. 2023 Feb 9;141(6):645-658. doi: 10.1182/blood.2022016783. Blood. 2023. PMID: 36223592 Free PMC article.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C. Kapp FG, et al. Among authors: rohlfs m. Clin Immunol. 2023 Nov;256:109777. doi: 10.1016/j.clim.2023.109777. Epub 2023 Sep 22. Clin Immunol. 2023. PMID: 37741518
OAS1/RNase L executes RIG-I ligand-dependent tumor cell apoptosis.
Boehmer DFR, Formisano S, de Oliveira Mann CC, Mueller SA, Kluge M, Metzger P, Rohlfs M, Hörth C, Kocheise L, Lichtenthaler SF, Hopfner KP, Endres S, Rothenfusser S, Friedel CC, Duewell P, Schnurr M, Koenig LM. Boehmer DFR, et al. Among authors: rohlfs m. Sci Immunol. 2021 Jul 16;6(61):eabe2550. doi: 10.1126/sciimmunol.abe2550. Sci Immunol. 2021. PMID: 34272227
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
Magg T, Okano T, Koenig LM, Boehmer DFR, Schwartz SL, Inoue K, Heimall J, Licciardi F, Ley-Zaporozhan J, Ferdman RM, Caballero-Oteyza A, Park EN, Calderon BM, Dey D, Kanegane H, Cho K, Montin D, Reiter K, Griese M, Albert MH, Rohlfs M, Gray P, Walz C, Conn GL, Sullivan KE, Klein C, Morio T, Hauck F. Magg T, et al. Among authors: rohlfs m. Sci Immunol. 2021 Jun 18;6(60):eabf9564. doi: 10.1126/sciimmunol.abf9564. Sci Immunol. 2021. PMID: 34145065 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: rohlfs m. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
Scoping review of biological treatment of deficiency of interleukin-36 receptor antagonist (DITRA) in children and adolescents.
Hospach T, Glowatzki F, Blankenburg F, Conzelmann D, Stirnkorb C, Müllerschön CS, von den Driesch P, Köhler LM, Rohlfs M, Klein C, Hauck F. Hospach T, et al. Among authors: rohlfs m. Pediatr Rheumatol Online J. 2019 Jul 8;17(1):37. doi: 10.1186/s12969-019-0338-1. Pediatr Rheumatol Online J. 2019. PMID: 31286990 Free PMC article. Review.
51 results