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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.
Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.
Bosticardo M, Dobbs K, Delmonte OM, Martins AJ, Pala F, Kawai T, Kenney H, Magro G, Rosen LB, Yamazaki Y, Yu HH, Calzoni E, Lee YN, Liu C, Stoddard J, Niemela J, Fink D, Castagnoli R, Ramba M, Cheng A, Riley D, Oikonomou V, Shaw E, Belaid B, Keles S, Al-Herz W, Cancrini C, Cifaldi C, Baris S, Sharapova S, Schuetz C, Gennery AR, Freeman AF, Somech R, Choo S, Giliani SC, Güngör T, Drozdov D, Meyts I, Moshous D, Neven B, Abraham RS, El-Marsafy A, Kanariou M, King A, Licciardi F, Cruz-Muñoz ME, Palma P, Poli C, Adeli M, Algeri M, Alroqi FJ, Bastard P, Bergerson JRE, Booth C, Brett A, Burns SO, Butte MJ, Padem N, de la Morena M, Dbaibo G, de Ravin SS, Dimitrova D, Djidjik R, Dorna MB, Dutmer CM, Elfeky R, Facchetti F, Fuleihan RL, Geha RS, Gonzalez-Granado LI, Haljasmägi L, Ale H, Hayward A, Hifanova AM, Ip W, Kaplan B, Kapoor N, Karakoc-Aydiner E, Kärner J, Keller MD, Dávila Saldaña BJ, Kiykim A, Kuijpers TW, Kuznetsova EE, Latysheva EA, Leiding JW, Locatelli F, Alva-Lozada G, McCusker C, Celmeli F, Morsheimer M, Ozen A, Parvaneh N, Pasic S, Plebani A, Preece K, Prockop S, Sakovich IS, Starkova EE, Torgerson T, Verbsky J, Walter JE, Ward B, Wisner EL, Draper D, Myint-Hpu K, Truong PM,… See abstract for full author list ➔ Bosticardo M, et al. Among authors: rosenzweig sd. Sci Immunol. 2025 Jan 10;10(103):eadq1697. doi: 10.1126/sciimmunol.adq1697. Epub 2025 Jan 10. Sci Immunol. 2025. PMID: 39792639
Thymic and T-cell intrinsic critical roles associated with Severe Combined Immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10.
Kuehn HS, Bosticardo M, Arrieta AC, Stoddard JL, Pala F, Niemela JE, Gil Silva AA, King PL, Esteve-Sole A, Naveen A, Anaya E, Truong PM, Delmonte OM, Buchbinder DK, Rosenzweig SD, Notarangelo LD. Kuehn HS, et al. Among authors: rosenzweig sd. J Allergy Clin Immunol. 2024 Dec 27:S0091-6749(24)02416-3. doi: 10.1016/j.jaci.2024.12.1082. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39734035
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia.
Saettini F, Guerra F, Mauri M, Salter CG, Adam MP, Adams D, Baple EL, Barredo E, Bhatia S, Borkhardt A, Brusco A, Bugarin C, Chinello C, Crosby AH, D'Souza P, Denti V, Fazio G, Giuliani S, Kuehn HS, Amel H, Elmi A, Lo B, Malighetti F, Mandrile G, Martín-Nalda A, Mefford HC, Moratto D, Emam Mousavi F, Nelson Z, Gutiérrez-Solana LG, Macnamara E, Michaud V, O'Leary M, Pagani L, Pavinato L, Santamaria PV, Planas-Serra L, Quadri M, Raspall-Chaure M, Rebellato S, Rosenzweig SD, Roubertie A, Holzinger D, Deal C, Vockley CW, Savino AM, L Stoddard J, Uhlig HH, Pujol A, Magni F, Paglia G, Cazzaniga G, Piazza R, Barberis M, Biondi A. Saettini F, et al. Among authors: rosenzweig sd. J Clin Immunol. 2024 Sep 23;45(1):15. doi: 10.1007/s10875-024-01793-8. J Clin Immunol. 2024. PMID: 39312004
Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.
Tahiat A, Belbouab R, Yagoubi A, Hakem S, Fernini F, Keddari M, Belhadj H, Touri S, Aggoune S, Stoddard J, Niemela J, Zerifi F, Melzi S, Aboura R, Saad-Djaballah A, Ferhani Y, Ketfi A, Messaoudi H, Bencharif Madani T, Benhacine Z, Dehimi A, Okka K, Amroune F, Fellahi M, Bendahmane C, Khoulani R, Oukil A, Soufane A, Bourelaf I, Boubidi C, Boukhenfouf N, Amine Ifri M, Khelafi N, Boudiaf H, Khelifi Touhami T, Meçabih F, Boucelma M, Zelaci A, Gacem O, Ladj MS, Mekki A, Bensaadi N, Benhalima M, Zeroual Z, Bioud B, Benameur M, Bouhdjila R, Bouzerar Z, Ibsaine O, Maouche H, Kedji L, Smati L, Boukari R, Lambert C, Rosenzweig SD, Notarangelo LD, Djenouhat K. Tahiat A, et al. Among authors: rosenzweig sd. Front Immunol. 2024 Jul 12;15:1402038. doi: 10.3389/fimmu.2024.1402038. eCollection 2024. Front Immunol. 2024. PMID: 39072316 Free PMC article.
Taurine-conjugated bile acids and their link to hepatic S1PR2 play a significant role in hepatitis C-related liver disease.
Ali RO, Haddad JA, Quinn GM, Zhang GY, Townsend E, Scheuing L, Hill KL, Menkart M, Oringher JL, Umarova R, Rampertaap S, Rosenzweig SD, Koh C, Levy EB, Kleiner DE, Etzion O, Heller T. Ali RO, et al. Among authors: rosenzweig sd. Hepatol Commun. 2024 Jul 5;8(7):e0478. doi: 10.1097/HC9.0000000000000478. eCollection 2024 Jul 1. Hepatol Commun. 2024. PMID: 38967598 Free PMC article.
IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.
Strauss T, Körholz J, Kuehn HS, Gil Silva AA, Taube F, Trautmann-Grill K, Stittrich A, Pietzsch L, Wiedemuth R, Wahn V, von Bernuth H, Rosenzweig SD, Fasshauer M, Krüger R, Schuetz C. Strauss T, et al. Among authors: rosenzweig sd. Front Pediatr. 2024 May 9;12:1345730. doi: 10.3389/fped.2024.1345730. eCollection 2024. Front Pediatr. 2024. PMID: 38813543 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 Free PMC article.
177 results