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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.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Haematopoietic stem cell transplantation for CTLA-4 insufficiency across Europe: an EBMT Inborn Errors Working Party study.
Tsilifis C, Speckmann C, Lum SH, Fox TA, Soler AM, Mozo Y, Corral D, Ewins AM, Hague R, Oikonomopoulou C, Kałwak K, Drabko K, Wynn R, Morris EC, Elcombe S, Bigley V, Lougaris V, Malagola M, Hauck F, Sedlacek P, Laberko A, Tjon JML, Buddingh EP, Wehr C, Grimbacher B, Gennery AR, Lankester AC, Albert MH, Neven B, Slatter MA. Tsilifis C, et al. Among authors: grimbacher b. J Allergy Clin Immunol. 2024 Aug 30:S0091-6749(24)00903-5. doi: 10.1016/j.jaci.2024.08.020. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39218359 Free 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. Clin Immunol. 2024 Aug;265:110292. doi: 10.1016/j.clim.2024.110292. Epub 2024 Jun 22. Clin Immunol. 2024. PMID: 38914362 Free article. Review.
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Zmajkovicova K, Pawar S, Sharapova SO, Geier CB, Wiest I, Nguyen C, Monticelli H, Maier-Munsa S, Chen K, Sleasman JW, Aleshkevich S, Polyakova E, Sakovich I, Warnatz K, Grimbacher B, Proietti M, Sondheimer N, Ujhazi B, Gordon S, Ellison M, Yilmaz M, Walter JE, Badarau A, Taveras AG, Neff JL, Bledsoe JR, Tarrant TK. Zmajkovicova K, et al. Among authors: grimbacher b. Blood Adv. 2024 Jul 23;8(14):3754-3759. doi: 10.1182/bloodadvances.2023011875. Blood Adv. 2024. PMID: 38768429 Free PMC article. No abstract available.
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. Update in: Clin Immunol. 2024 Aug;265:110292. doi: 10.1016/j.clim.2024.110292. PMID: 38712244 Free PMC article. Updated. Preprint.
336 results