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Page 1
Outcomes of Hematopoietic Stem Cell Transplantation in 5 Patients with Autosomal Recessive RIPK1-Deficiency.
Walsh RB, McNaughton P, Nademi Z, Laberko A, Balashov D, Al-Mousa H, Arkwright PD, Wynn RF, Flood T, Williams E, Cant A, Abinun M, Hambleton S, Slatter M, Gennery AR, Lum SH, Owens S. Walsh RB, et al. Among authors: hambleton s. J Clin Immunol. 2025 Jan 6;45(1):65. doi: 10.1007/s10875-024-01850-2. J Clin Immunol. 2025. PMID: 39762600 Free PMC article.
Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4+ IL-9-expressing cells.
Rao G, Mack CD, Nguyen T, Wong N, Payne K, Worley L, Gray PE, Wong M, Hsu P, Stormon MO, Preece K, Suan D, O'Sullivan M, Blincoe AK, Sinclair J, Okada S, Hambleton S, Arkwright PD, Boztug K, Stepensky P, Cooper MA, Bezrodnik L, Nadeau KC, Abolhassani H, Abraham RS, Seppänen MRJ, Béziat V, Bustamante J, Forbes Satter LR, Leiding JW, Meyts I, Jouanguy E, Boisson-Dupuis S, Uzel G, Puel A, Casanova JL, Tangye SG, Ma CS. Rao G, et al. Among authors: hambleton s. J Allergy Clin Immunol. 2024 Nov 30:S0091-6749(24)01283-1. doi: 10.1016/j.jaci.2024.11.031. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39622295
Genome sequencing, phylogenomics, and population analyses of Tilletia, with recognition of one common bunt species, T. caries (synonym T. laevis), distinct from dwarf bunt, T. controversa.
Nguyen HDT, Dettman JR, Redhead SA, Gerdis S, Dadej K, Tremblay ÉD, Carey J, Bilodeau GJ, Hambleton S. Nguyen HDT, et al. Among authors: hambleton s. Mycologia. 2025 Jan-Feb;117(1):60-75. doi: 10.1080/00275514.2024.2418792. Epub 2024 Nov 25. Mycologia. 2025. PMID: 39585793 Free article.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Neutralizing Autoantibodies against Interleukin-10 in Inflammatory Bowel Disease.
Griffin H, Ceron-Gutierrez L, Gharahdaghi N, Ebrahimi S, Davies S, Loo PS, Szabo A, Williams E, Mukhopadhyay A, McLoughlin L, Irwin S, Travis S, Klenerman P, Bunn S, Cant AJ, Hambleton S, Uhlig HH, Doffinger R. Griffin H, et al. Among authors: hambleton s. N Engl J Med. 2024 Aug 1;391(5):434-441. doi: 10.1056/NEJMoa2312302. N Engl J Med. 2024. PMID: 39083772 Free PMC article.
CD3+TCRαβ/CD19+-depleted stem cell boost and CD45RO+ memory T-cell add-back as a successful salvage treatment for poor graft function unresponsive to eltrombopag, following a second allogenic HSCT.
Ramanathan S, Roberts W, Nademi Z, Shenton G, Watson H, Matthews E, Carruthers K, Gennery AR, Hambleton S, Slatter M, Lum SH. Ramanathan S, et al. Among authors: hambleton s. Pediatr Blood Cancer. 2024 Oct;71(10):e31203. doi: 10.1002/pbc.31203. Epub 2024 Jul 15. Pediatr Blood Cancer. 2024. PMID: 39010278 No abstract available.
218 results