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Page 1
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al-Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A; COVID Human Genetic Effort; Gothe F, Houhou-Fidouh N, Hackett SJ, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, Béziat V, Zhang Q, Duncan CJ, Hambleton S, Casanova JL, Meyts I. Bucciol G, et al. Among authors: hambleton s. J Clin Invest. 2023 Jun 15;133(12):e168321. doi: 10.1172/JCI168321. J Clin Invest. 2023. PMID: 36976641 Free PMC article.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: hambleton s. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: hambleton s. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 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.
A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Stremenova Spegarova J, Sinnappurajar P, Al Julandani D, Navickas R, Griffin H, Ahuja M, Grainger A, Livingstone K, Rice GI, Sutherland F, Hayes C, Parke S, Pang L, Roderick MR, Slatter M, Crow Y, Ramanan AV, Hambleton S. Stremenova Spegarova J, et al. Among authors: hambleton s. J Clin Invest. 2024 May 16;134(13):e179193. doi: 10.1172/JCI179193. J Clin Invest. 2024. PMID: 38753439 Free PMC article. No abstract available.
CD3+TCRαβ/CD19+-Depleted Mismatched Family or Unrelated Donor Salvage Stem Cell Transplantation for Graft Dysfunction in Inborn Errors of Immunity.
Ramanathan S, Lum SH, Nademi Z, Carruthers K, Watson H, Flood T, Owens S, Williams E, Hambleton S, Gennery AR, Slatter M. Ramanathan S, et al. Among authors: hambleton s. Transplant Cell Ther. 2023 Aug;29(8):513.e1-513.e9. doi: 10.1016/j.jtct.2023.05.019. Epub 2023 Jun 4. Transplant Cell Ther. 2023. PMID: 37279857 Free article.
Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.
Kammermeier J, Lamb CA, Jones KDJ, Anderson CA, Baple EL, Bolton C, Braggins H, Coulter TI, Gilmour KC, Gregory V, Hambleton S, Hartley D, Hawthorne AB, Hearn S, Laurence A, Parkes M, Russell RK, Speight RA, Travis S, Wilson DC, Uhlig HH. Kammermeier J, et al. Among authors: hambleton s. Lancet Gastroenterol Hepatol. 2023 Mar;8(3):271-286. doi: 10.1016/S2468-1253(22)00337-5. Epub 2023 Jan 9. Lancet Gastroenterol Hepatol. 2023. PMID: 36634696 Review.
218 results