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788 results

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Case Report: 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:tpmd240290. doi: 10.4269/ajtmh.24-0290. Online ahead of print. 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.
Hematopoietic cell transplantation for DOCK8 deficiency: Results from a prospective clinical trial.
Freeman AF, Gonzalez CE, Yates B, Cole K, Little L, Flannelly E, Steinberg SM, Mo G, Piette N, Hughes TE, Cuellar-Rodriguez J, Gea-Banacloche J, Heller T, Hammoud DA, Holland SM, Kong HH, Young FD, Jing H, Kayaoglu B, Su HC, Pai SY, Hickstein DD, Shah NN. Freeman AF, et al. Among authors: holland sm. J Allergy Clin Immunol. 2024 Sep 2:S0091-6749(24)00904-7. doi: 10.1016/j.jaci.2024.08.021. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39233015
Case Report: p40 phox deficiency underlying pediatric-onset systemic lupus erythematosus.
Nieto-Patlán A, Fernández Dávila NS, Wang Y, Zelnick M, Muscal E, Curry M, Lupski JR, Holland SM, Yuan B, Kuhns DB, Vogel TP, Chinn IK. Nieto-Patlán A, et al. Among authors: holland sm. Front Pediatr. 2024 Aug 20;12:1425874. doi: 10.3389/fped.2024.1425874. eCollection 2024. Front Pediatr. 2024. PMID: 39228435 Free PMC article.
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