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Year Number of Results
2008 1
2009 1
2012 2
2013 2
2014 1
2015 3
2016 2
2017 4
2018 3
2019 4
2020 4
2021 2
2022 3
2023 3
2024 3

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32 results

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Page 1
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Repérant C, Durel B, Bordet JC, Pellé O, Lebreton C, Magérus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hié M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Ménager M, Sepulveda FE, Adam F, Rieux-Laucat F. Boussard C, et al. Among authors: sepulveda fe. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639 Free article.
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus AL, Carey B, Landekic M, Panikulam P, Deutsch G, Ogishi M, Arango-Franco CA, Philippot Q, Modaresi M, Mohammadzadeh I, Corcini Berndt M, Rinchai D, Le Voyer T, Rosain J, Momenilandi M, Martin-Fernandez M, Khan T, Bohlen J, Han JE, Deslys A, Bernard M, Gajardo-Carrasco T, Soudée C, Le Floc'h C, Migaud M, Seeleuthner Y, Jang MS, Nikolouli E, Seyedpour S, Begueret H, Emile JF, Le Guen P, Tavazzi G, Colombo CNJ, Marzani FC, Angelini M, Trespidi F, Ghirardello S, Alipour N, Molitor A, Carapito R, Mazloomrezaei M, Rokni-Zadeh H, Changi-Ashtiani M, Brouzes C, Vargas P, Borghesi A, Lachmann N, Bahram S, Crestani B, Fayon M, Galode F, Pahari S, Schlesinger LS, Marr N, Bogunovic D, Boisson-Dupuis S, Béziat V, Abel L, Borie R, Young LR, Deterding R, Shahrooei M, Rezaei N, Parvaneh N, Craven D, Gros P, Malo D, Sepulveda FE, Nogee LM, Aladjidi N, Trapnell BC, Casanova JL, Bustamante J. Neehus AL, et al. Among authors: sepulveda fe. Cell. 2024 Jan 18;187(2):390-408.e23. doi: 10.1016/j.cell.2023.11.036. Epub 2023 Dec 28. Cell. 2024. PMID: 38157855 Free PMC article.
Small Molecule Inhibitors of Interferon-Induced JAK-STAT Signalling.
Thoidingjam LK, Blouin CM, Gaillet C, Brion A, Solier S, Niyomchon S, El Marjou A, Mouasni S, Sepulveda FE, de Saint Basile G, Lamaze C, Rodriguez R. Thoidingjam LK, et al. Among authors: sepulveda fe. Angew Chem Int Ed Engl. 2022 Aug 8;61(32):e202205231. doi: 10.1002/anie.202205231. Epub 2022 Jun 14. Angew Chem Int Ed Engl. 2022. PMID: 35612562 Free PMC article.
Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.
Gajardo T, Bernard M, Lô M, Turck E, Leveau C, El-Daher MT, Deslys A, Panikulam P, Menche C, Kurowska M, Le Lay G, Barbier L, Moshous D, Neven B, Farin HF, Fischer A, Ménasché G, de Saint Basile G, Vargas P, Sepulveda FE. Gajardo T, et al. Among authors: sepulveda fe. J Allergy Clin Immunol. 2023 Oct;152(4):949-960. doi: 10.1016/j.jaci.2023.06.016. Epub 2023 Jun 29. J Allergy Clin Immunol. 2023. PMID: 37390900 Free article.
Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice.
Soudais C, Schaus R, Bachelet C, Minet N, Mouasni S, Garcin C, Souza CL, David P, Cousu C, Asnagli H, Parker A, Palmquist-Gomes P, Sepulveda FE, Storck S, Meilhac SM, Fischer A, Martin E, Latour S. Soudais C, et al. Among authors: sepulveda fe. Nat Commun. 2024 Mar 4;15(1):1982. doi: 10.1038/s41467-024-45805-y. Nat Commun. 2024. PMID: 38438357 Free PMC article.
Rab44 regulates murine mast cell-driven anaphylaxis through kinesin-1-dependent secretory granule translocation.
Longé C, Bratti M, Kurowska M, Vibhushan S, David P, Desmeure V, Huang JD, Fischer A, de Saint Basile G, Sepulveda FE, Blank U, Ménasché G. Longé C, et al. Among authors: sepulveda fe. J Allergy Clin Immunol. 2022 Sep;150(3):676-689. doi: 10.1016/j.jaci.2022.04.009. Epub 2022 Apr 22. J Allergy Clin Immunol. 2022. PMID: 35469841 Free article.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Li Y, Führer M, Bahrami E, Socha P, Klaudel-Dreszler M, Bouzidi A, Liu Y, Lehle AS, Magg T, Hollizeck S, Rohlfs M, Conca R, Field M, Warner N, Mordechai S, Shteyer E, Turner D, Boukari R, Belbouab R, Walz C, Gaidt MM, Hornung V, Baumann B, Pannicke U, Al Idrissi E, Ali Alghamdi H, Sepulveda FE, Gil M, de Saint Basile G, Hönig M, Koletzko S, Muise AM, Snapper SB, Schwarz K, Klein C, Kotlarz D. Li Y, et al. Among authors: sepulveda fe. Proc Natl Acad Sci U S A. 2019 Jan 15;116(3):970-975. doi: 10.1073/pnas.1813582116. Epub 2018 Dec 27. Proc Natl Acad Sci U S A. 2019. PMID: 30591564 Free PMC article.
Hemophagocytic Lymphohistiocytosis Gene Mutations in Adult Patients Presenting With CLIPPERS-Like Syndrome.
Taieb G, Kaphan E, Duflos C, Lebrun-Frénay C, Rigau V, Thouvenot E, Duhin-Gand E, Lefaucheur R, Hoang-Xuan K, Coulette S, Ouallet JC, Menjot de Champfleur N, Tranchant C, Picard C, Fusaro M, Sepulveda FE, Labauge P, de Saint Basile G. Taieb G, et al. Among authors: sepulveda fe. Neurol Neuroimmunol Neuroinflamm. 2021 Mar 3;8(3):e970. doi: 10.1212/NXI.0000000000000970. Print 2021 May. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 33658321 Free PMC article.
32 results