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Page 1
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.
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
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.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
Groß M, Speckmann C, May A, Gajardo-Carrasco T, Wustrau K, Maier SL, Panning M, Huzly D, Agaimy A, Bryceson YT, Choo S, Chow CW, Dückers G, Fasth A, Fraitag S, Gräwe K, Haxelmans S, Holzinger D, Hudowenz O, Hübschen JM, Khurana C, Kienle K, Klifa R, Korn K, Kutzner H, Lämmermann T, Ledig S, Lipsker D, Meeths M, Naumann-Bartsch N, Rascon J, Schänzer A, Seidl M, Tesi B, Vauloup-Fellous C, Vollmer-Kary B, Warnatz K, Wehr C, Neven B, Vargas P, Sepulveda FE, Lehmberg K, Schmitt-Graeff A, Ehl S. Groß M, et al. Among authors: sepulveda fe. J Allergy Clin Immunol. 2022 Jan;149(1):388-399.e4. doi: 10.1016/j.jaci.2021.05.007. Epub 2021 May 24. J Allergy Clin Immunol. 2022. PMID: 34033843
UNC93B1 interacts with the calcium sensor STIM1 for efficient antigen cross-presentation in dendritic cells.
Maschalidi S, Nunes-Hasler P, Nascimento CR, Sallent I, Lannoy V, Garfa-Traore M, Cagnard N, Sepulveda FE, Vargas P, Lennon-Duménil AM, van Endert P, Capiod T, Demaurex N, Darrasse-Jèze G, Manoury B. Maschalidi S, et al. Among authors: sepulveda fe. Nat Commun. 2017 Nov 21;8(1):1640. doi: 10.1038/s41467-017-01601-5. Nat Commun. 2017. PMID: 29158474 Free PMC 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.
Gene transfer into hematopoietic stem cells reduces HLH manifestations in a murine model of Munc13-4 deficiency.
Soheili T, Durand A, Sepulveda FE, Rivière J, Lagresle-Peyrou C, Sadek H, de Saint Basile G, Martin S, Mavilio F, Cavazzana M, André-Schmutz I. Soheili T, et al. Among authors: sepulveda fe. Blood Adv. 2017 Dec 21;1(27):2781-2789. doi: 10.1182/bloodadvances.2017012088. eCollection 2017 Dec 26. Blood Adv. 2017. PMID: 29296930 Free PMC article.
HAVCR2 mutations are associated with severe hemophagocytic syndrome in subcutaneous panniculitis-like T-cell lymphoma.
Sonigo G, Battistella M, Beylot-Barry M, Ingen-Housz-Oro S, Franck N, Barete S, Boulinguez S, Dereure O, Bonnet N, Socié G, Brice P, Boccara O, Bodemer C, Adamski H, D'Incan M, Ortonne N, Fraitag S, Brunet-Possenti F, Dalle S, Suarez F, Marçais A, Skowron F, Haidar D, Maubec E, Bohelay G, Laroche L, Mahé A, Birckel E, Bouaziz JD, Brocheriou I, Dubois R, Faiz S, Fadlallah J, Ram-Wolff C, Carlotti A, Bens G, Balme B, Vergier B, Laurent-Roussel S, Deschamps L, Carpentier O, Moguelet P, Herve G, Comoz F, Le Gall F, Leverger G, Finon A, Augereau O, Bléchet C, Kerdraon R, Lamant L, Tournier E, Franck F, Costes-Martineau V, Szablewski V, Taix S, Beschet I, Guerin F, Sepulveda FE, Bagot M, de Saint Basile G, Michonneau D, de Masson A. Sonigo G, et al. Among authors: sepulveda fe. Blood. 2020 Mar 26;135(13):1058-1061. doi: 10.1182/blood.2019003811. Blood. 2020. PMID: 32005988 Free article. No abstract available.
35 results