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Page 1
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: holland sm. Sci Immunol. 2025 Jan 10;10(103):eadq1697. doi: 10.1126/sciimmunol.adq1697. Epub 2025 Jan 10. Sci Immunol. 2025. PMID: 39792639
Durlobactam in combination with β-lactams to combat Mycobacterium abscessus.
Shin E, Dousa KM, Taracila MA, Bethel CR, Nantongo M, Nguyen DC, Akusobi C, Kurz SG, Plummer MS, Daley CL, Holland SM, Rubin EJ, Bulitta JB, Boom WH, Kreiswirth BN, Bonomo RA. Shin E, et al. Among authors: holland sm. Antimicrob Agents Chemother. 2024 Dec 23:e0117424. doi: 10.1128/aac.01174-24. Online ahead of print. Antimicrob Agents Chemother. 2024. PMID: 39714147 Free article.
Altered Purinergic Signaling and CD8+ T Cell Dysregulation in STAT3 GOF Syndrome.
Duran JSC, Sayed S, Dalalo MC, Mauracher AA, Knight MS, Conrey PE, Schultz AB, Hay CA, Lindell RB, Howard CA, Abrams ED, Schmitt EG, Thelin MA, Bluestein S, Seroogy CM, Pozos TC, Thatayatikom A, Lundgren I, Gauthier A, Canna SW, Su HC, Keller MD, Delmonte OM, Satter LRF, Holland SM, Bergerson JRE, Leiding JW, Romberg N, Freeman AF, Villarino AV, Anderson MS, Cooper MA, Vogel TP, Henrickson SE. Duran JSC, et al. Among authors: holland sm. bioRxiv [Preprint]. 2024 Dec 13:2024.12.12.626682. doi: 10.1101/2024.12.12.626682. bioRxiv. 2024. PMID: 39713308 Free PMC article. Preprint.
Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation.
de Oliveira Rekowski LL, Caldas GC, Menezes-Silva L, Santos CNO, Magalhães LS, Cazzaniga RA, Dos Santos NA, Santos PL, Louzada da Silva RL, da Silva AM, Holland SM, de Jesus AR. de Oliveira Rekowski LL, et al. Among authors: holland sm. Am J Trop Med Hyg. 2024 Nov 5;112(1):124-127. doi: 10.4269/ajtmh.24-0290. Print 2025 Jan 8. Am J Trop Med Hyg. 2024. PMID: 39499953
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS. Ochoa S, et al. Among authors: holland sm. Sci Transl Med. 2024 Sep 18;16(765):eadk0845. doi: 10.1126/scitranslmed.adk0845. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292801
Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.
Dancy E, Stratton P, Pichard DC, Marciano BE, Cowen EW, McBride AA, Van Doorslaer K, Merideth MA, Salmeri N, Hughes MS, Heller T, Parta M, Hickstein DD, Kong HH, Holland SM, Zerbe CS. Dancy E, et al. Among authors: holland sm. Front Immunol. 2024 Aug 29;15:1445711. doi: 10.3389/fimmu.2024.1445711. eCollection 2024. Front Immunol. 2024. PMID: 39267745 Free PMC article.
792 results