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Page 1
Somatic genetic alterations predict hematological progression in GATA2 deficiency.
Largeaud L, Collin M, Monselet N, Vergez F, Fregona V, Larcher L, Hirsch P, Duployez N, Bidet A, Luquet I, Bustamante J, Dufrechou S, Prade N, Nolla M, Hamelle C, Tavitian S, Habib C, Meynier M, Bellanne-Chantelot C, Donadieu J, De Fontbrune FS, Fieschi C, Ferster A, Delhommeau F, Delabesse E, Pasquet M. Largeaud L, et al. Among authors: fieschi c. Haematologica. 2023 Jun 1;108(6):1515-1529. doi: 10.3324/haematol.2022.282250. Haematologica. 2023. PMID: 36727400 Free PMC article.
Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency.
Rivoisy C, Gérard L, Boutboul D, Malphettes M, Fieschi C, Durieu I, Tron F, Masseau A, Bordigoni P, Alric L, Haroche J, Hoarau C, Bérézné A, Carmagnat M, Mouillot G, Oksenhendler E; DEFI study group. Rivoisy C, et al. Among authors: fieschi c. J Clin Immunol. 2012 Feb;32(1):98-105. doi: 10.1007/s10875-011-9604-9. Epub 2011 Oct 15. J Clin Immunol. 2012. PMID: 22002594
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray PE, Bel… See abstract for full author list ➔ Le Voyer T, et al. Among authors: fieschi c. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
Clinical, Radiologic, and Immunologic Features of Patients With CTLA4 Deficiency With Neurologic Involvement.
Coustal C, Goulabchand R, Labauge P, Guilpain P, Carra-Dallière C, Januel E, Jeziorski E, Salle V, Viallard JF, Boutboul D, Fieschi C, Gobert D, Aladjidi N, Rullier P, Graveleau J, Piel-Julian M, Suarez F, Neven B, Mahlaoui N, Ayrignac X. Coustal C, et al. Among authors: fieschi c. Neurology. 2023 Oct 10;101(15):e1560-e1566. doi: 10.1212/WNL.0000000000207609. Epub 2023 Jul 24. Neurology. 2023. PMID: 37487754
Real-life use of mTOR inhibitor-based therapy in adults with autoimmune cytopenia highlights strong efficacy in relapsing/refractory multi-lineage autoimmune cytopenia.
Sorin B, Fadlallah J, Garzaro M, Vigneron J, Bertinchamp R, Boutboul D, Oksenhendler E, Fieschi C, Malphettes M, Galicier L. Sorin B, et al. Among authors: fieschi c. Ann Hematol. 2023 Aug;102(8):2059-2068. doi: 10.1007/s00277-023-05340-0. Epub 2023 Jun 29. Ann Hematol. 2023. PMID: 37386347
Correction to: New Dominant‑Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130‑Dependent Hyper‑IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: fieschi c. J Clin Immunol. 2023 Oct;43(7):1674. doi: 10.1007/s10875-023-01539-y. J Clin Immunol. 2023. PMID: 37341861 Free PMC article. No abstract available.
New Dominant-Negative IL6ST Variants Expand the Immunological and Clinical Spectrum of GP130-Dependent Hyper-IgE Syndrome.
Arlabosse T, Materna M, Riccio O, Schnider C, Angelini F, Perreau M, Rochat I, Superti-Furga A, Campos-Xavier B, Héritier S, Pereira A, Deswarte C, Lévy R, Distefano M, Bustamante J, Roelens M, Borie R, Le Brun M, Crestani B, Casanova JL, Puel A, Hofer M, Fieschi C, Theodoropoulou K, Béziat V, Candotti F. Arlabosse T, et al. Among authors: fieschi c. J Clin Immunol. 2023 Oct;43(7):1566-1580. doi: 10.1007/s10875-023-01517-4. Epub 2023 Jun 5. J Clin Immunol. 2023. PMID: 37273120 Free PMC article.
Pregnancy in primary immunodeficiency diseases: The PREPI study.
Mallart E, Françoise U, Driessen M, Blanche S, Lortholary O, Lefort A, Caseris M, Fischer A, Mahlaoui N, Charlier C; PREPI study group. Mallart E, et al. J Allergy Clin Immunol. 2023 Sep;152(3):760-770. doi: 10.1016/j.jaci.2023.05.006. Epub 2023 May 18. J Allergy Clin Immunol. 2023. PMID: 37210041
458 results