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Page 1
Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.
Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, Belot A, Bergerson JRE, Bernard TJ, Brogan PA, Berkun Y, Deuitch NT, Dimitrova D, Georgin-Lavialle SA, Gattorno M, Grimbacher B, Hashem H, Hershfield MS, Ichord RN, Izawa K, Kanakry JA, Khubchandani RP, Klouwer FCC, Luton EA, Man AW, Meyts I, Van Montfrans JM, Ozen S, Saarela J, Santo GC, Sharma A, Soldatos A, Sparks R, Torgerson TR, Uriarte IL, Youngstein TAB, Zhou Q, Aksentijevich I, Kastner DL, Chambers EP, Ombrello AK; DADA2 Foundation. Lee PY, et al. Among authors: grimbacher b. JAMA Netw Open. 2023 May 1;6(5):e2315894. doi: 10.1001/jamanetworkopen.2023.15894. JAMA Netw Open. 2023. PMID: 37256629 Free article. Review.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Bel… See abstract for full author list ➔ Le Voyer T, et al. Among authors: grimbacher b. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards.
Uhlig HH, Booth C, Cho J, Dubinsky M, Griffiths AM, Grimbacher B, Hambleton S, Huang Y, Jones K, Kammermeier J, Kanegane H, Koletzko S, Kotlarz D, Klein C, Lenardo MJ, Lo B, McGovern DPB, Özen A, de Ridder L, Ruemmele F, Shouval DS, Snapper SB, Travis SP, Turner D, Wilson DC, Muise AM. Uhlig HH, et al. Among authors: grimbacher b. Nat Rev Gastroenterol Hepatol. 2023 Dec;20(12):810-828. doi: 10.1038/s41575-023-00838-4. Epub 2023 Oct 3. Nat Rev Gastroenterol Hepatol. 2023. PMID: 37789059 Review.
Progressive Multifocal Leukoencephalopathy Treated by Immune Checkpoint Inhibitors.
Boumaza X, Bonneau B, Roos-Weil D, Pinnetti C, Rauer S, Nitsch L, Del Bello A, Jelcic I, Sühs KW, Gasnault J, Goreci Y, Grauer O, Gnanapavan S, Wicklein R, Lambert N, Perpoint T, Beudel M, Clifford D, Sommet A, Cortese I, Martin-Blondel G; Immunotherapy for PML Study Group. Boumaza X, et al. Ann Neurol. 2023 Feb;93(2):257-270. doi: 10.1002/ana.26512. Epub 2022 Oct 17. Ann Neurol. 2023. PMID: 36151879 Free PMC article.
OTULIN-related conditions: Report of a new case and review of the literature using GenIA.
Caballero-Oteyza A, Crisponi L, Peng XP, Wang H, Mrovecova P, Olla S, Siguri C, Marnissi F, Jouhadi Z, Aksentijevich I, Grimbacher B, Proietti M. Caballero-Oteyza A, et al. Among authors: grimbacher b. Res Sq [Preprint]. 2024 Mar 8:rs.3.rs-3950863. doi: 10.21203/rs.3.rs-3950863/v2. Res Sq. 2024. PMID: 38712244 Free PMC article. Preprint.
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Khoshnevisan R, Hassanzadeh S, Klein C, Rohlfs M, Grimbacher B, Molavi N, Zamanifar A, Khoshnevisan A, Jafari M, Bagherpour B, Behnam M, Najafi S, Sherkat R. Khoshnevisan R, et al. Among authors: grimbacher b. Immunogenetics. 2024 Jun;76(3):189-202. doi: 10.1007/s00251-024-01342-y. Epub 2024 Apr 29. Immunogenetics. 2024. PMID: 38683392
Lipocalin-2 expression identifies an intestinal regulatory neutrophil population during acute graft-versus-host disease.
Czech M, Schneider S, Peltokangas N, El Khawanky N, Ghimire S, Andrieux G, Hülsdünker J, Krausz M, Proietti M, Braun LM, Rückert T, Langenbach M, Schmidt D, Martin I, Wenger V, de Vega E, Haring E, Pourjam M, Pfeifer D, Schmitt-Graeff A, Grimbacher B, Aumann K, Kircher B, Tilg H, Raffatellu M, Thiele Orberg E, Häcker G, Duyster J, Köhler N, Holler E, Nachbaur D, Boerries M, Gerner RR, Grün D, Zeiser R. Czech M, et al. Among authors: grimbacher b. Sci Transl Med. 2024 Feb 21;16(735):eadi1501. doi: 10.1126/scitranslmed.adi1501. Epub 2024 Feb 21. Sci Transl Med. 2024. PMID: 38381845
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
330 results