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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1982 1
1985 4
1986 3
1987 4
1988 4
1989 2
1990 5
1991 14
1992 5
1993 3
1994 5
1995 7
1996 2
1997 7
1998 4
1999 5
2000 6
2001 5
2002 2
2003 8
2004 5
2005 4
2006 7
2007 6
2008 16
2009 8
2010 9
2011 14
2012 7
2013 11
2014 3
2015 3
2016 3
2017 10
2018 5
2019 6
2020 6
2021 6
2022 3
2023 7
2024 0

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216 results

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Page 1
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. Among authors: roifman cm. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
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: roifman cm. 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.
CD3 delta immunodeficiency.
Roifman CM. Roifman CM. Curr Opin Allergy Clin Immunol. 2004 Dec;4(6):479-84. doi: 10.1097/00130832-200412000-00002. Curr Opin Allergy Clin Immunol. 2004. PMID: 15640687 Review.
Defining combined immunodeficiency.
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E. Roifman CM, et al. J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029. Epub 2012 Jun 2. J Allergy Clin Immunol. 2012. PMID: 22664165
Preface.
Roifman CM. Roifman CM. Immunol Allergy Clin North Am. 2010 Feb;30(1):xiii-xiv. doi: 10.1016/j.iac.2009.12.002. Immunol Allergy Clin North Am. 2010. PMID: 20113882 No abstract available.
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW. Merico D, et al. Among authors: roifman cm. Nat Commun. 2015 Nov 2;6:8718. doi: 10.1038/ncomms9718. Nat Commun. 2015. PMID: 26522830 Free PMC article.
Signal-transduction defects in T cells.
Grunebaum E, Roifman CM. Grunebaum E, et al. Among authors: roifman cm. Clin Rev Allergy Immunol. 2001 Feb;20(1):27-42. doi: 10.1385/CRIAI:20:1:27. Clin Rev Allergy Immunol. 2001. PMID: 11269226 Review.
216 results