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30 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. Blood. 2023 Jun 1;141(22):2713-2726. doi: 10.1182/blood.2022018486. Blood. 2023. PMID: 36952639 Free article.
Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response.
de Cevins C, Delage L, Batignes M, Riller Q, Luka M, Remaury A, Sorin B, Fali T, Masson C, Hoareau B, Meunier C, Parisot M, Zarhrate M, Pérot BP, García-Paredes V, Carbone F, Galliot L, Nal B, Pierre P, Canard L, Boussard C, Crickx E, Guillemot JC, Bader-Meunier B, Bélot A, Quartier P, Frémond ML, Neven B, Boldina G, Augé F, Alain F, Didier M, Rieux-Laucat F, Ménager MM. de Cevins C, et al. Among authors: boussard c. Cell Rep Med. 2023 Dec 19;4(12):101333. doi: 10.1016/j.xcrm.2023.101333. Cell Rep Med. 2023. PMID: 38118407 Free PMC article.
[Dermatological features of auto-inflammatory recurrent fevers].
Escudier A, Mauvais FX, Bastard P, Boussard C, Jaoui A, Koskas V, Lecoq E, Michel A, Orcel MC, Truelle PE, Wohrer D, Piram M. Escudier A, et al. Among authors: boussard c. Arch Pediatr. 2018 Feb;25(2):150-162. doi: 10.1016/j.arcped.2017.12.001. Epub 2018 Feb 1. Arch Pediatr. 2018. PMID: 29395885 Review. French.
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Voyer TL, Debray JC, Stolzenberg MC, Pellé O, Becquard T, Riestra MR, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: boussard c. medRxiv [Preprint]. 2024 May 17:2024.05.17.24307356. doi: 10.1101/2024.05.17.24307356. medRxiv. 2024. Update in: J Exp Med. 2025 Feb 3;222(2):e20240843. doi: 10.1084/jem.20240843. PMID: 38798321 Free PMC article. Updated. Preprint.
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Benavides-Nieto M, Adam F, Martin E, Boussard C, Lagresle-Peyrou C, Callebaut I, Kauskot A, Repérant C, Feng M, Bordet JC, Castelle M, Morelle G, Brouzes C, Zarhrate M, Panikulam P, Lambert N, Picard C, Bodet D, Rouger-Gaudichon J, Revy P, de Villartay JP, Moshous D. Benavides-Nieto M, et al. Among authors: boussard c. J Clin Invest. 2024 Jul 11;134(17):e169994. doi: 10.1172/JCI169994. J Clin Invest. 2024. PMID: 39225097 Free PMC article.
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: boussard c. Lancet. 2024 May 11;403(10439):1893-1894. doi: 10.1016/S0140-6736(24)00803-1. Lancet. 2024. PMID: 38734477 No abstract available.
[Cell architecture defect and autoimmunity: DOCK11 deficiency].
Rieux-Laucat F, Delage L, Boussard C. Rieux-Laucat F, et al. Among authors: boussard c. Med Sci (Paris). 2024 Mar;40(3):245-247. doi: 10.1051/medsci/2024006. Epub 2024 Mar 22. Med Sci (Paris). 2024. PMID: 38520098 Free article. French. No abstract available.
Cardiac valve involvement in ADAR-related type I interferonopathy.
Crow Y, Keshavan N, Barbet JP, Bercu G, Bondet V, Boussard C, Dedieu N, Duffy D, Hully M, Giardini A, Gitiaux C, Rice GI, Seabra L, Bader-Meunier B, Rahman S. Crow Y, et al. Among authors: boussard c. J Med Genet. 2020 Jul;57(7):475-478. doi: 10.1136/jmedgenet-2019-106457. Epub 2019 Nov 26. J Med Genet. 2020. PMID: 31772029
Delayed intracranial complications after concussion.
de Boussard CN, Bellocco R, af Geijerstam JL, Borg J, Adami J. de Boussard CN, et al. J Trauma. 2006 Sep;61(3):577-81. doi: 10.1097/01.ta.0000224901.67930.ce. J Trauma. 2006. PMID: 16966990
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Le Voyer T, Debray JC, Stolzenberg MC, Schmutz M, Pellé O, Becquard T, Rodrigo Riestra M, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Bretot C, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: boussard c. J Exp Med. 2025 Feb 3;222(2):e20240843. doi: 10.1084/jem.20240843. Epub 2025 Jan 15. J Exp Med. 2025. PMID: 39812688 Free article.
30 results