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Page 1
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
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
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
175 results