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Page 1
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype.
Micol R, Ben Slama L, Suarez F, Le Mignot L, Beauté J, Mahlaoui N, Dubois d'Enghien C, Laugé A, Hall J, Couturier J, Vallée L, Delobel B, Rivier F, Nguyen K, Billette de Villemeur T, Stephan JL, Bordigoni P, Bertrand Y, Aladjidi N, Pedespan JM, Thomas C, Pellier I, Koenig M, Hermine O, Picard C, Moshous D, Neven B, Lanternier F, Blanche S, Tardieu M, Debré M, Fischer A, Stoppa-Lyonnet D; CEREDIH Network Investigators. Micol R, et al. Among authors: moshous d. J Allergy Clin Immunol. 2011 Aug;128(2):382-9.e1. doi: 10.1016/j.jaci.2011.03.052. Epub 2011 Jun 12. J Allergy Clin Immunol. 2011. PMID: 21665257
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators. Seidel MG, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15. J Allergy Clin Immunol Pract. 2019. PMID: 30776527
Correction to: A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.
Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Quellec AL, Jeziorski E, Fischer A, Lortholary O; CEREDIH French PID study group. Coignard-Biehler H, et al. J Clin Immunol. 2020 Jul;40(5):786-787. doi: 10.1007/s10875-020-00793-8. J Clin Immunol. 2020. PMID: 32578002
Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.
Morelle G, Breton S, Robert MP, Michot C, Boussard C, Cormier-Daire V, Moshous D. Morelle G, et al. Among authors: moshous d. Lancet. 2024 May 11;403(10439):1893-1894. doi: 10.1016/S0140-6736(24)00803-1. Lancet. 2024. PMID: 38734477 No abstract available.
Downregulation of V-ATPase V0 Sector Induces Microvillus Atrophy Independently of Apical Trafficking in the Mammalian Intestine.
Bidaud-Meynard A, Bourdais A, Nicolle O, Duclos M, Saleh J, Ruemmele FM, Farin HF, Delacour D, Moshous D, Michaux G. Bidaud-Meynard A, et al. Among authors: moshous d. Cell Mol Gastroenterol Hepatol. 2024;17(6):1072-1075. doi: 10.1016/j.jcmgh.2024.02.011. Epub 2024 Feb 16. Cell Mol Gastroenterol Hepatol. 2024. PMID: 38369130 Free PMC article. No abstract available.
Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity.
Lum SH, Albert MH, Gilbert P, Sirait T, Algeri M, Muratori R, Fournier B, Laberko A, Karakukcu M, Unal E, Ayas MF, Yadav SP, Fisgin T, Elfeky R, Fernandes JF, Faraci M, Cole T, Schulz AS, Meisel R, Zecca M, Ifversen M, Biffi A, Diana JS, Vallée TC, Giardino S, Ersoy GZ, Moshous D, Gennery AR, Balashov D, Bonfim CMS, Locatelli F, Lankester AC, Neven B, Slatter MA. Lum SH, et al. Among authors: moshous d. Blood. 2024 Apr 26:blood.2024024038. doi: 10.1182/blood.2024024038. Online ahead of print. Blood. 2024. PMID: 38669631
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP. Donkó Á, et al. Among authors: moshous d. Blood. 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. Blood. 2024. PMID: 38194689
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Among authors: moshous d. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.
Wang C, Sun B, Wu K, Farmer JR, Ujhazi B, Geier CB, Gordon S, Westermann-Clark E, Savic S, Secord E, Sargur R, Chen K, Jin JJ, Dutmer CM, Kanariou MG, Adeli M, Palma P, Bonfim C, Lycopoulou E, Wolska-Kusnierz B, Dbaibo G, Bleesing J, Moshous D, Neven B, Schuetz C, Geha RS, Notarangelo LD, Miano M, Buchbinder DK, Csomos K, Wang W, Wang JY, Wang X, Walter JE. Wang C, et al. Among authors: moshous d. Blood Adv. 2024 Feb 13;8(3):603-607. doi: 10.1182/bloodadvances.2023011264. Blood Adv. 2024. PMID: 37883797 Free PMC article. No abstract available.
194 results