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Items: 1 to 20 of 80

1.

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.

Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network, Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A.

J Exp Med. 2020 Jun 1;217(6). pii: e20191804. doi: 10.1084/jem.20191804.

PMID:
32207811
2.

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells.

Rodriguez R, Fournier B, Cordeiro DJ, Winter S, Izawa K, Martin E, Boutboul D, Lenoir C, Fraitag S, Kracker S, Watts TH, Picard C, Bruneau J, Callebaut I, Fischer A, Neven B, Latour S.

J Exp Med. 2019 Dec 2;216(12):2800-2818. doi: 10.1084/jem.20190678. Epub 2019 Sep 19.

PMID:
31537641
3.

Epidemiology of Castleman disease associated with AA amyloidosis: description of 2 new cases and literature review.

Fayand A, Boutboul D, Galicier L, Kahn JE, Buob D, Boffa JJ, Cez A, Oksenhendler E, Grateau G, Ducharme-Bénard S, Georgin-Lavialle S.

Amyloid. 2019 Dec;26(4):197-202. doi: 10.1080/13506129.2019.1641078. Epub 2019 Jul 31.

PMID:
31364863
4.

Epidemiology, Risk Factors, and Outcomes of Opportunistic Infections after Kidney Allograft Transplantation in the Era of Modern Immunosuppression: A Monocentric Cohort Study.

Attias P, Melica G, Boutboul D, De Castro N, Audard V, Stehlé T, Gaube G, Fourati S, Botterel F, Fihman V, Audureau E, Grimbert P, Matignon M.

J Clin Med. 2019 Apr 30;8(5). pii: E594. doi: 10.3390/jcm8050594.

5.

Treatment and outcome of Unicentric Castleman Disease: a retrospective analysis of 71 cases.

Boutboul D, Fadlallah J, Chawki S, Fieschi C, Malphettes M, Dossier A, Gérard L, Mordant P, Meignin V, Oksenhendler E, Galicier L.

Br J Haematol. 2019 Jul;186(2):269-273. doi: 10.1111/bjh.15921. Epub 2019 Apr 23.

PMID:
31016730
6.

Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations.

Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, Boutboul D, Latour S, Barlogis V, Galambrun C, Stray-Pedersen A, Erichsen HC, Marsh RA.

J Allergy Clin Immunol. 2019 Jul;144(1):339-342. doi: 10.1016/j.jaci.2019.03.025. Epub 2019 Apr 6. No abstract available.

PMID:
30965037
7.

Monoclonal Gammopathy, Arthralgias, and Recurrent Fever Syndrome: A New Autoinflammatory Syndrome?

Terré A, Talbot A, Louvrier C, Picque JB, Mahévas M, Boutboul D, Amselem S, Giurgea I, Grateau G, Georgin-Lavialle S; French Network of Dysimmune Disorders Associated with Hemopathies.

J Rheumatol. 2019 Nov;46(11):1535-1539. doi: 10.3899/jrheum.181204. Epub 2019 Mar 15.

PMID:
30877203
8.

Kaposi sarcoma-associated herpesvirus/human herpesvirus 8-associated lymphoproliferative disorders.

Oksenhendler E, Boutboul D, Galicier L.

Blood. 2019 Mar 14;133(11):1186-1190. doi: 10.1182/blood-2018-11-852442. Epub 2019 Jan 4. Review.

PMID:
30610029
9.

Synergistic convergence of microbiota-specific systemic IgG and secretory IgA.

Fadlallah J, Sterlin D, Fieschi C, Parizot C, Dorgham K, El Kafsi H, Autaa G, Ghillani-Dalbin P, Juste C, Lepage P, Malphettes M, Galicier L, Boutboul D, Clément K, André S, Marquet F, Tresallet C, Mathian A, Miyara M, Oksenhendler E, Amoura Z, Yssel H, Larsen M, Gorochov G.

J Allergy Clin Immunol. 2019 Apr;143(4):1575-1585.e4. doi: 10.1016/j.jaci.2018.09.036. Epub 2018 Dec 13.

10.

Pseudo-Sarcoidosis Revealing MonoMAC Syndrome.

Damian L, Sauvêtre G, Marguet F, Verdalle-Cazes M, Battistella M, Boutboul D.

J Clin Immunol. 2018 Oct;38(7):739-741. doi: 10.1007/s10875-018-0551-6. Epub 2018 Oct 2. No abstract available.

PMID:
30280306
11.

A comprehensive analysis of Lymphoma-associated haemophagocytic syndrome in a large French multicentre cohort detects some clues to improve prognosis.

Bigenwald C, Fardet L, Coppo P, Meignin V, Lazure T, Fabiani B, Kohn M, Oksenhendler E, Boutboul D, Uzzan M, Lambotte O, Galicier L.

Br J Haematol. 2018 Oct;183(1):68-75. doi: 10.1111/bjh.15506. Epub 2018 Jul 24.

PMID:
30043391
12.

Campylobacter infection in adult patients with primary antibody deficiency.

Dion J, Malphettes M, Bénéjat L, Mégraud F, Wargnier A, Boutboul D, Galicier L, Le Moing V, Giraud P, Jaccard A, Nove-Josserand R, Fieschi C, Oksenhendler E, Gérard L; DEFI study group.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):1038-1041.e4. doi: 10.1016/j.jaip.2018.06.014. Epub 2018 Jul 6. No abstract available.

PMID:
29981862
13.

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.

J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12.

PMID:
29906526
14.

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency.

Boutboul D, Kuehn HS, Van de Wyngaert Z, Niemela JE, Callebaut I, Stoddard J, Lenoir C, Barlogis V, Farnarier C, Vely F, Yoshida N, Kojima S, Kanegane H, Hoshino A, Hauck F, Lhermitte L, Asnafi V, Roehrs P, Chen S, Verbsky JW, Calvo KR, Husami A, Zhang K, Roberts J, Amrol D, Sleaseman J, Hsu AP, Holland SM, Marsh R, Fischer A, Fleisher TA, Picard C, Latour S, Rosenzweig SD.

J Clin Invest. 2018 Jul 2;128(7):3071-3087. doi: 10.1172/JCI98164. Epub 2018 Jun 11.

15.

Microbial ecology perturbation in human IgA deficiency.

Fadlallah J, El Kafsi H, Sterlin D, Juste C, Parizot C, Dorgham K, Autaa G, Gouas D, Almeida M, Lepage P, Pons N, Le Chatelier E, Levenez F, Kennedy S, Galleron N, de Barros JP, Malphettes M, Galicier L, Boutboul D, Mathian A, Miyara M, Oksenhendler E, Amoura Z, Doré J, Fieschi C, Ehrlich SD, Larsen M, Gorochov G.

Sci Transl Med. 2018 May 2;10(439). pii: eaan1217. doi: 10.1126/scitranslmed.aan1217.

PMID:
29720448
16.

Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.

Vince N, Mouillot G, Malphettes M, Limou S, Boutboul D, Guignet A, Bertrand V, Pellet P, Gourraud PA, Debré P, Oksenhendler E, Théodorou I, Fieschi C; DEFI Study Group.

Hum Immunol. 2018 Jul;79(7):571-577. doi: 10.1016/j.humimm.2018.04.014. Epub 2018 Apr 27.

PMID:
29709555
17.

Cutis laxa associated with monoclonal gammopathy: 14 new cases and review of the literature.

Jachiet M, Harel S, Saussine A, Battistella M, Rybojad M, Asli B, Bengoufa D, Mahevas T, Bessis D, Galicier L, Schmutz JL, Hadj-Rabia S, Boutboul D, Lebbé C, Bagot M, Malphettes M, Lipsker D, Fermand JP, Bouaziz JD, Arnulf B; Study Group of Systemic Diseases in Dermatology (Étude des Maladies Systémiques en Dermatologie); Groupe d'Etude des Dermatoses Associées à une Immunoglobuline Monoclonale.

J Am Acad Dermatol. 2018 Nov;79(5):945-947. doi: 10.1016/j.jaad.2018.03.039. Epub 2018 Apr 3. Review. No abstract available.

PMID:
29621555
18.

Identification and characterization of two novel Gammapapillomavirus genomes in skin of an immunosuppressed Epidermodysplasia Verruciformis patient.

Dutta S, Robitaille A, Aubin F, Fouéré S, Galicier L, Boutboul D, Luzi F, Di Bonito P, Tommasino M, Gheit T.

Virus Res. 2018 Apr 2;249:66-68. doi: 10.1016/j.virusres.2018.03.003. Epub 2018 Mar 8.

PMID:
29526719
19.

Loss of RASGRP1 in humans impairs T-cell expansion leading to Epstein-Barr virus susceptibility.

Winter S, Martin E, Boutboul D, Lenoir C, Boudjemaa S, Petit A, Picard C, Fischer A, Leverger G, Latour S.

EMBO Mol Med. 2018 Feb;10(2):188-199. doi: 10.15252/emmm.201708292.

20.

Epidermodysplasia verruciformis in an adult patient with a germline Interleukin-2 inducible T-Cell Kinase mutation and lymphoma: the case of inherited versus acquired.

Fouéré S, Aubin F, Péré H, Galicier L, Gheit T, Tommasino M, Ram Wolff C, Boutboul D, Bagot M.

J Eur Acad Dermatol Venereol. 2018 Jun;32(6):e240-e241. doi: 10.1111/jdv.14756. Epub 2018 Jan 8. No abstract available.

PMID:
29237091

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