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Page 1
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: rosenzweig sd. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
NF-kappa-B essential modulator (NEMO) gene polymorphism in an adult woman with systemic lupus erythematosus and recurrent non-tuberculous mycobacterial disseminated infections.
Thomas K, Tsioulos G, Kotsogianni C, Banos A, Niemela JE, Cheng A, DiMaggio T, Holland S, Rosenzweig SD, Tziolos N, Papadopoulos A, Lionakis MS, Boumpas DT. Thomas K, et al. Among authors: rosenzweig sd. RMD Open. 2023 Jun;9(2):e003149. doi: 10.1136/rmdopen-2023-003149. RMD Open. 2023. PMID: 37364928 Free PMC article.
The Role of Interferon-γ in Autoimmune Polyendocrine Syndrome Type 1.
Oikonomou V, Smith G, Constantine GM, Schmitt MM, Ferré EMN, Alejo JC, Riley D, Kumar D, Dos Santos Dias L, Pechacek J, Hadjiyannis Y, Webb T, Seifert BA, Ghosh R, Walkiewicz M, Martin D, Besnard M, Snarr BD, Deljookorani S, Lee CR, DiMaggio T, Barber P, Rosen LB, Cheng A, Rastegar A, de Jesus AA, Stoddard J, Kuehn HS, Break TJ, Kong HH, Castelo-Soccio L, Colton B, Warner BM, Kleiner DE, Quezado MM, Davis JL, Fennelly KP, Olivier KN, Rosenzweig SD, Suffredini AF, Anderson MS, Swidergall M, Guillonneau C, Notarangelo LD, Goldbach-Mansky R, Neth O, Monserrat-Garcia MT, Valverde-Fernandez J, Lucena JM, Gomez-Gila AL, Garcia Rojas A, Seppänen MRJ, Lohi J, Hero M, Laakso S, Klemetti P, Lundberg V, Ekwall O, Olbrich P, Winer KK, Afzali B, Moutsopoulos NM, Holland SM, Heller T, Pittaluga S, Lionakis MS. Oikonomou V, et al. Among authors: rosenzweig sd. N Engl J Med. 2024 May 30;390(20):1873-1884. doi: 10.1056/NEJMoa2312665. N Engl J Med. 2024. PMID: 38810185
Cancer Prevalence in Children with Inborn Errors of Immunity: Report from a Single Institution.
Mitchell MR, Urdinez L, Bernasconi AR, Danielian S, Katsikas MM, Sajaroff EO, Roffé G, Villa NM, Galluzzo L, Sanz M, Palma AM, Bouso C, Prieto E, Goris V, Yancoski J, Rosenzweig SD, Oleastro M, Rosé A, Cacciavillano W, Felizzia G, Guitter M, Sánchez La Rosa C, Ríos M, Zubizarreta P, Felice MS, Rossi JG. Mitchell MR, et al. Among authors: rosenzweig sd. J Clin Immunol. 2024 May 28;44(6):138. doi: 10.1007/s10875-024-01736-3. J Clin Immunol. 2024. PMID: 38805138
A novel IKZF1 variant in a family with autosomal dominant CVID: A case for expanding exon coverage in inborn errors of immunity.
Stojkic I, Prince BT, Kuehn HS, Gil Silva AA, Varga EA, Rosenzweig SD, Ramadesikan S, Supinger R, Marhabaie M, Chang P, Mardis ER, Koboldt DC. Stojkic I, et al. Among authors: rosenzweig sd. Clin Immunol. 2024 May 9;264:110244. doi: 10.1016/j.clim.2024.110244. Online ahead of print. Clin Immunol. 2024. PMID: 38734037 Free article.
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.
Oda H, Manthiram K, Chavan PP, Rieser E, Veli Ö, Kaya Ö, Rauch C, Nakabo S, Kuehn HS, Swart M, Wang Y, Çelik NI, Molitor A, Ziaee V, Movahedi N, Shahrooei M, Parvaneh N, Alipour-Olyei N, Carapito R, Xu Q, Preite S, Beck DB, Chae JJ, Nehrebecky M, Ombrello AK, Hoffmann P, Romeo T, Deuitch NT, Matthíasardóttir B, Mullikin J, Komarow H, Stoddard J, Niemela J, Dobbs K, Sweeney CL, Anderton H, Lawlor KE, Yoshitomi H, Yang D, Boehm M, Davis J, Mudd P, Randazzo D, Tsai WL, Gadina M, Kaplan MJ, Toguchida J, Mayer CT, Rosenzweig SD, Notarangelo LD, Iwai K, Silke J, Schwartzberg PL, Boisson B, Casanova JL, Bahram S, Rao AP, Peltzer N, Walczak H, Lalaoui N, Aksentijevich I, Kastner DL. Oda H, et al. Among authors: rosenzweig sd. Nat Immunol. 2024 May;25(5):764-777. doi: 10.1038/s41590-024-01817-w. Epub 2024 Apr 12. Nat Immunol. 2024. PMID: 38609546
Mulibrey nanism and immunological complications: a comprehensive case report and literature review.
Gazzin A, Pala F, Bosticardo M, Niemela J, Stoddard J, Biasin E, Quarello P, Carli D, Ferroni F, Delmonte OM, Montin D, Rosenzweig SD, Licciardi F, Notarangelo LD. Gazzin A, et al. Among authors: rosenzweig sd. Front Immunol. 2023 Dec 5;14:1303251. doi: 10.3389/fimmu.2023.1303251. eCollection 2023. Front Immunol. 2023. PMID: 38116000 Free PMC article. Review.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Kuehn HS, Sakovich IS, Niemela JE, Gil Silva AA, Stoddard JL, Polyakova EA, Esteve Sole A, Aleshkevich SN, Uglova TA, Belevtsev MV, Vertelko VR, Shman TV, Kupchinskaya AN, Walter JE, Fleisher TA, Notarangelo LD, Peng XP, Delmonte OM, Sharapova SO, Rosenzweig SD. Kuehn HS, et al. Among authors: rosenzweig sd. J Clin Invest. 2024 Feb 1;134(3):e172573. doi: 10.1172/JCI172573. J Clin Invest. 2024. PMID: 38015619 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: rosenzweig sd. 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.
170 results