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Page 1
Severe hematologic complications after lung transplantation in patients with telomerase complex mutations.
Borie R, Kannengiesser C, Hirschi S, Le Pavec J, Mal H, Bergot E, Jouneau S, Naccache JM, Revy P, Boutboul D, Peffault de la Tour R, Wemeau-Stervinou L, Philit F, Cordier JF, Thabut G, Crestani B, Cottin V; Groupe d’Etudes et de Recherche sur les Maladies “Orphelines” Pulmonaires (GERM“O”P). Borie R, et al. Among authors: boutboul d. J Heart Lung Transplant. 2015 Apr;34(4):538-46. doi: 10.1016/j.healun.2014.11.010. Epub 2014 Nov 13. J Heart Lung Transplant. 2015. PMID: 25612863 Free article.
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: boutboul d. 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.
Good syndrome: an adult-onset immunodeficiency remarkable for its high incidence of invasive infections and autoimmune complications.
Malphettes M, Gérard L, Galicier L, Boutboul D, Asli B, Szalat R, Perlat A, Masseau A, Schleinitz N, Le Guenno G, Viallard JF, Bonnotte B, Thiercelin-Legrand MF, Sanhes L, Borie R, Georgin-Lavialle S, Fieschi C, Oksenhendler E; DEFicit Immunitaire de l'adulte Study Group. Malphettes M, et al. Among authors: boutboul d. Clin Infect Dis. 2015 Jul 15;61(2):e13-9. doi: 10.1093/cid/civ269. Epub 2015 Mar 31. Clin Infect Dis. 2015. PMID: 25828999
[Hot lung nodules on PET-CT].
Sannier A, Cazes A, Mordant P, Boutboul D, Borie R, Danel C. Sannier A, et al. Among authors: boutboul d. Ann Pathol. 2017 Aug;37(4):327-331. doi: 10.1016/j.annpat.2017.06.001. Epub 2017 Jul 25. Ann Pathol. 2017. PMID: 28754215 Review. French. No abstract available.
Pneumocystosis revealing immunodeficiency secondary to TERC mutation.
Borie R, Kannengiesser C, Sicre de Fontbrune F, Boutboul D, Tabeze L, Brunet-Possenti F, Lainey E, Debray MP, Cazes A, Crestani B. Borie R, et al. Among authors: boutboul d. Eur Respir J. 2017 Nov 22;50(5):1701443. doi: 10.1183/13993003.01443-2017. Print 2017 Nov. Eur Respir J. 2017. PMID: 29167304 Free article. No abstract available.
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.
Berland A, Rosain J, Kaltenbach S, Allain V, Mahlaoui N, Melki I, Fievet A, Dubois d'Enghien C, Ouachée-Chardin M, Perrin L, Auger N, Cipe FE, Finocchi A, Dogu F, Suarez F, Moshous D, Leblanc T, Belot A, Fieschi C, Boutboul D, Malphettes M, Galicier L, Oksenhendler E, Blanche S, Fischer A, Revy P, Stoppa-Lyonnet D, Picard C, de Villartay JP. Berland A, et al. Among authors: boutboul d. J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12. J Allergy Clin Immunol. 2019. PMID: 29906526 Clinical Trial.
Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort.
Phillips-Houlbracq M, Mal H, Cottin V, Gauvain C, Beier F, Sicre de Fontbrune F, Sidali S, Mornex JF, Hirschi S, Roux A, Weisenburger G, Roussel A, Wémeau-Stervinou L, Le Pavec J, Pison C, Marchand Adam S, Froidure A, Lazor R, Naccache JM, Jouneau S, Nunes H, Reynaud-Gaubert M, Le Borgne A, Boutboul D, Ba I, Boileau C, Crestani B, Kannengiesser C, Borie R; OrphaLung Network. Phillips-Houlbracq M, et al. Among authors: boutboul d. Am J Transplant. 2022 Apr;22(4):1236-1244. doi: 10.1111/ajt.16893. Epub 2021 Dec 28. Am J Transplant. 2022. PMID: 34854205 Free article.
Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency.
Rivoisy C, Gérard L, Boutboul D, Malphettes M, Fieschi C, Durieu I, Tron F, Masseau A, Bordigoni P, Alric L, Haroche J, Hoarau C, Bérézné A, Carmagnat M, Mouillot G, Oksenhendler E; DEFI study group. Rivoisy C, et al. Among authors: boutboul d. J Clin Immunol. 2012 Feb;32(1):98-105. doi: 10.1007/s10875-011-9604-9. Epub 2011 Oct 15. J Clin Immunol. 2012. PMID: 22002594
145 results