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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
Sustained remission after haploidentical bone marrow transplantation in a child with refractory systemic juvenile idiopathic arthritis.
Morelle G, Castelle M, Pinto G, Breton S, Bendavid M, Boussard C, Mouy R, Bader-Meunier B, Semeraro M, Faye A, Cavazzana M, Neven B, Blanche S, Quartier P, Moshous D. Morelle G, et al. Among authors: boussard c. Pediatr Rheumatol Online J. 2021 Mar 12;19(1):27. doi: 10.1186/s12969-021-00523-3. Pediatr Rheumatol Online J. 2021. PMID: 33712044 Free PMC 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.
[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 French. No abstract available.
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.
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
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. PMID: 38798321 Free PMC article. Preprint.
32 results