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Page 1
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO,… See abstract for full author list ➔ Maccari ME, et al. Among authors: cavazzana m. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899
SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.
Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, Schwarz K, Schulz AS, Hoenig M, Sparber-Sauer M, Gatz SA, Denzer C, Blanche S, Moshous D, Picard C, Horn BN, de Villartay JP, Cavazzana M, Debatin KM, Friedrich W, Fischer A, Cowan MJ. Schuetz C, et al. Among authors: cavazzana m. Blood. 2014 Jan 9;123(2):281-9. doi: 10.1182/blood-2013-01-476432. Epub 2013 Oct 21. Blood. 2014. PMID: 24144642 Free PMC article.
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome.
van Til NP, Sarwari R, Visser TP, Hauer J, Lagresle-Peyrou C, van der Velden G, Malshetty V, Cortes P, Jollet A, Danos O, Cassani B, Zhang F, Thrasher AJ, Fontana E, Poliani PL, Cavazzana M, Verstegen MM, Villa A, Wagemaker G. van Til NP, et al. Among authors: cavazzana m. J Allergy Clin Immunol. 2014 Apr;133(4):1116-23. doi: 10.1016/j.jaci.2013.10.009. Epub 2013 Dec 9. J Allergy Clin Immunol. 2014. PMID: 24332219
The BLNK adaptor protein has a nonredundant role in human B-cell differentiation.
Lagresle-Peyrou C, Millili M, Luce S, Boned A, Sadek H, Rouiller J, Frange P, Cros G, Cavazzana M, André-Schmutz I, Schiff C. Lagresle-Peyrou C, et al. Among authors: cavazzana m. J Allergy Clin Immunol. 2014 Jul;134(1):145-54. doi: 10.1016/j.jaci.2013.12.1083. Epub 2014 Feb 28. J Allergy Clin Immunol. 2014. PMID: 24582315
Circulating endothelial cells as markers of endothelial dysfunction during hematopoietic stem cell transplantation for pediatric primary immunodeficiency.
Touzot F, Moshous D, Cros G, Frange P, Chomton M, Frémond ML, Neven B, Cavazzana M, Fischer A, Blanche S, Helley D. Touzot F, et al. Among authors: cavazzana m. J Allergy Clin Immunol. 2014 Nov;134(5):1203-6. doi: 10.1016/j.jaci.2014.05.039. Epub 2014 Jul 16. J Allergy Clin Immunol. 2014. PMID: 25042984 Clinical Trial. No abstract available.
Successful RAG1-SCID gene therapy depends on the level of RAG1 expression.
Pike-Overzet K, Baum C, Bredius RG, Cavazzana M, Driessen GJ, Fibbe WE, Gaspar HB, Hoeben RC, Lagresle-Peyrou C, Lankester A, Meij P, Schambach A, Thrasher A, Van Dongen JJ, Zwaginga JJ, Staal FJ. Pike-Overzet K, et al. Among authors: cavazzana m. J Allergy Clin Immunol. 2014 Jul;134(1):242-3. doi: 10.1016/j.jaci.2014.04.033. Epub 2014 Jun 26. J Allergy Clin Immunol. 2014. PMID: 25117803 No abstract available.
A human immunodeficiency caused by mutations in the PIK3R1 gene.
Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S. Deau MC, et al. Among authors: cavazzana m. J Clin Invest. 2014 Sep;124(9):3923-8. doi: 10.1172/JCI75746. Epub 2014 Aug 18. J Clin Invest. 2014. PMID: 25133428 Free PMC article.
Gene therapy for Wiskott-Aldrich Syndrome.
Bosticardo M, Ferrua F, Cavazzana M, Aiuti A. Bosticardo M, et al. Among authors: cavazzana m. Curr Gene Ther. 2014;14(6):413-21. doi: 10.2174/1566523214666140918103731. Curr Gene Ther. 2014. PMID: 25245089 Review.
CD45RA depletion in HLA-mismatched allogeneic hematopoietic stem cell transplantation for primary combined immunodeficiency: A preliminary study.
Touzot F, Neven B, Dal-Cortivo L, Gabrion A, Moshous D, Cros G, Chomton M, Luby JM, Terniaux B, Magalon J, Picard C, Blanche S, Fischer A, Cavazzana M. Touzot F, et al. Among authors: cavazzana m. J Allergy Clin Immunol. 2015 May;135(5):1303-9.e1-3. doi: 10.1016/j.jaci.2014.08.019. Epub 2014 Oct 3. J Allergy Clin Immunol. 2015. PMID: 25282016
166 results