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Page 1
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Geier CB, Ellison M, Cruz R, Pawar S, Leiss-Piller A, Zmajkovicova K, McNulty SM, Yilmaz M, Evans MO 2nd, Gordon S, Ujhazi B, Wiest I, Abolhassani H, Aghamohammadi A, Barmettler S, Bhar S, Bondarenko A, Bolyard AA, Buchbinder D, Cada M, Cavieres M, Connelly JA, Dale DC, Deordieva E, Dorsey MJ, Drysdale SB, Ehl S, Elfeky R, Fioredda F, Firkin F, Förster-Waldl E, Geng B, Goda V, Gonzalez-Granado L, Grunebaum E, Grzesk E, Henrickson SE, Hilfanova A, Hiwatari M, Imai C, Ip W, Jyonouchi S, Kanegane H, Kawahara Y, Khojah AM, Kim VH, Kojić M, Kołtan S, Krivan G, Langguth D, Lau YL, Leung D, Miano M, Mersyanova I, Mousallem T, Muskat M, Naoum FA, Noronha SA, Ouederni M, Ozono S, Richmond GW, Sakovich I, Salzer U, Schuetz C, Seeborg FO, Sharapova SO, Sockel K, Volokha A, von Bonin M, Warnatz K, Wegehaupt O, Weinberg GA, Wong KJ, Worth A, Yu H, Zharankova Y, Zhao X, Devlin L, Badarau A, Csomos K, Keszei M, Pereira J, Taveras AG, Beaussant-Cohen SL, Ong MS, Shcherbina A, Walter JE. Geier CB, et al. Among authors: beaussant cohen sl. J Clin Immunol. 2022 Nov;42(8):1748-1765. doi: 10.1007/s10875-022-01312-7. Epub 2022 Aug 10. J Clin Immunol. 2022. PMID: 35947323 Free PMC article.
ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
Wallace JG, Alosaimi MF, Khayat CD, Jaber F, Almutairi A, Beaussant-Cohen S, Pinkus G, Fleming M, Mehawej C, Chou J, Geha RS. Wallace JG, et al. Among authors: beaussant cohen s. J Allergy Clin Immunol. 2021 Feb;147(2):743-745.e1. doi: 10.1016/j.jaci.2020.06.019. Epub 2020 Jul 4. J Allergy Clin Immunol. 2021. PMID: 32628964 Free PMC article.
MR imaging features of peritoneal alveolar echinococcosis.
Beaussant-Cohen S, Richou C, Lenoir M, Grenouillet F, Bresson-Hadni S, Delabrousse E. Beaussant-Cohen S, et al. Diagn Interv Imaging. 2018 Jul-Aug;99(7-8):511-512. doi: 10.1016/j.diii.2018.02.009. Epub 2018 Mar 24. Diagn Interv Imaging. 2018. PMID: 29580747 Free article. No abstract available.
Combined immunodeficiency in a patient with c-Rel deficiency.
Beaussant-Cohen S, Jaber F, Massaad MJ, Weeks S, Jones J, Alosaimi MF, Wallace J, Al-Herz W, Geha RS, Chou J. Beaussant-Cohen S, et al. J Allergy Clin Immunol. 2019 Aug;144(2):606-608.e4. doi: 10.1016/j.jaci.2019.05.003. Epub 2019 May 16. J Allergy Clin Immunol. 2019. PMID: 31103457 Free PMC article.
Combined immunodeficiency due to a mutation in the γ1 subunit of the coat protein I complex.
Bainter W, Platt CD, Park SY, Stafstrom K, Wallace JG, Peters ZT, Massaad MJ, Becuwe M, Salinas SA, Jones J, Beaussant-Cohen S, Jaber F, Yang JS, Walther TC, Orange JS, Rao C, Rakoff-Nahoum S, Tsokos M, Naseem SUR, Al-Tamemi S, Chou J, Hsu VW, Geha RS. Bainter W, et al. Among authors: beaussant cohen s. J Clin Invest. 2021 Feb 1;131(3):e140494. doi: 10.1172/JCI140494. J Clin Invest. 2021. PMID: 33529166 Free PMC article.
Lymphoid differentiation of hematopoietic stem cells requires efficient Cxcr4 desensitization.
Freitas C, Wittner M, Nguyen J, Rondeau V, Biajoux V, Aknin ML, Gaudin F, Beaussant-Cohen S, Bertrand Y, Bellanné-Chantelot C, Donadieu J, Bachelerie F, Espéli M, Dalloul A, Louache F, Balabanian K. Freitas C, et al. Among authors: beaussant cohen s. J Exp Med. 2017 Jul 3;214(7):2023-2040. doi: 10.1084/jem.20160806. Epub 2017 May 26. J Exp Med. 2017. PMID: 28550161 Free PMC article.
DOCK8 Mutation Syndrome: A Diagnostic Challenge for Dermatologists.
Moreau J, Beaussant-Cohen S, Aubin F, Rohrlich PS, Puzenat E. Moreau J, et al. Among authors: beaussant cohen s. Acta Derm Venereol. 2016 Nov 2;96(7):991-992. doi: 10.2340/00015555-2288. Acta Derm Venereol. 2016. PMID: 26573532 Free article. No abstract available.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
Calzoni E, Platt CD, Keles S, Kuehn HS, Beaussant-Cohen S, Zhang Y, Pazmandi J, Lanzi G, Pala F, Tahiat A, Artac H, Heredia RJ, Dmytrus J, Reisli I, Uygun V, Uygun D, Bingol A, Basaran E, Djenouhat K, Benhalla N, Bendahmane C, Emiroglu M, Kirchhausen T, Pasham M, Jones J, Wallace JG, Zheng L, Boisson B, Porta F, Rosenzweig SD, Su H, Giliani S, Lenardo M, Geha RS, Boztug K, Chou J, Notarangelo LD. Calzoni E, et al. Among authors: beaussant cohen s. J Allergy Clin Immunol. 2019 Jun;143(6):2317-2321.e12. doi: 10.1016/j.jaci.2019.02.014. Epub 2019 Feb 26. J Allergy Clin Immunol. 2019. PMID: 30822429 Free PMC article.
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
Beaussant Cohen S, Fenneteau O, Plouvier E, Rohrlich PS, Daltroff G, Plantier I, Dupuy A, Kerob D, Beaupain B, Bordigoni P, Fouyssac F, Delezoide AL, Devouassoux G, Nicolas JF, Bensaid P, Bertrand Y, Balabanian K, Chantelot CB, Bachelerie F, Donadieu J. Beaussant Cohen S, et al. Orphanet J Rare Dis. 2012 Sep 25;7:71. doi: 10.1186/1750-1172-7-71. Orphanet J Rare Dis. 2012. PMID: 23009155 Free PMC article.