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Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: aguilar c. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, Berrebi D, Roy M, Gérart S, Chapel H, Schwerd T, Siproudhis L, Schäppi M, Al-Ahmari A, Mori M, Yamaide A, Galicier L, Neven B, Routes J, Uhlig HH, Koletzko S, Patel S, Kanegane H, Picard C, Fischer A, Bensussan NC, Ruemmele F, Hugot JP, Latour S. Aguilar C, et al. J Allergy Clin Immunol. 2014 Nov;134(5):1131-41.e9. doi: 10.1016/j.jaci.2014.04.031. Epub 2014 Jun 15. J Allergy Clin Immunol. 2014. PMID: 24942515 Clinical Trial.
XIAP deficiency syndrome in humans.
Latour S, Aguilar C. Latour S, et al. Among authors: aguilar c. Semin Cell Dev Biol. 2015 Mar;39:115-23. doi: 10.1016/j.semcdb.2015.01.015. Epub 2015 Feb 7. Semin Cell Dev Biol. 2015. PMID: 25666262 Review.
A Transmissible Rash of Palms and Soles in a 58-Year-Old Man.
Guery R, Aguilar C, Schuffenecker I, Leruez-Ville M, Cheminant M, Lanternier F, Lecuit M, Lortholary O. Guery R, et al. Among authors: aguilar c. Clin Infect Dis. 2017 Jul 1;65(1):176-177. doi: 10.1093/cid/cix256. Clin Infect Dis. 2017. PMID: 29319786 No abstract available.
Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency.
Sokol H, Mahlaoui N, Aguilar C, Bach P, Join-Lambert O, Garraffo A, Seksik P, Danion F, Jegou S, Straube M, Lenoir C, Neven B, Moshous D, Blanche S, Pigneur B, Goulet O, Ruemmele F, Suarez F, Beaugerie L, Pannier S, Mazingue F, Lortholary O, Galicier L, Picard C, de Saint Basile G, Latour S, Fischer A. Sokol H, et al. Among authors: aguilar c. J Allergy Clin Immunol. 2019 Feb;143(2):775-778.e6. doi: 10.1016/j.jaci.2018.09.021. Epub 2018 Oct 10. J Allergy Clin Immunol. 2019. PMID: 30312711 No abstract available.
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies.
Hadjadj J, Guffroy A, Delavaud C, Taieb G, Meyts I, Fresard A, Streichenberger N, L'Honneur AS, Rozenberg F, D'Aveni M, Aguilar C, Rosain J, Picard C, Mahlaoui N, Lecuit M, Hermine O, Lortholary O, Suarez F. Hadjadj J, et al. Among authors: aguilar c. J Clin Immunol. 2019 Jan;39(1):55-64. doi: 10.1007/s10875-018-0578-8. Epub 2018 Dec 14. J Clin Immunol. 2019. PMID: 30552536
935 results