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Items: 1 to 50 of 162

1.

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 Sep 19. pii: jem.20190678. doi: 10.1084/jem.20190678. [Epub ahead of print]

PMID:
31537641
2.

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.

Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Le Quellec A, Jeziorski E, Fischer A, Lortholary O; CEREDIH French PID study group, Aaron L, Adoue D, Aguilar C, Aladjidi N, Alcais A, Amoura Z, Arlet P, Armari-Alla C, Bader-Meunier B, Bayart S, Bertrand Y, Bienvenu B, Blanche S, Bodet D, Bonnotte B, Borie R, Boutard P, Briandet C, Brion JP, Brouard J, Cohen-Beaussant S, Costes L, Couderc LJ, Cougoul P, Courteille V, de Saint Basile G, Devoldere C, Deville A, Donadieu J, Dore E, Dulieu F, Edan C, Entz-Werle N, Fieschi C, Forestier A, Fouyssac F, Gajdos V, Galicier L, Gandemer V, Gardembas M, Gaud C, Guillerm G, Hachulla E, Hamidou M, Hermine O, Hoarau C, Humbert S, Jaccard A, Jacquot S, Jais JP, Jaussaud R, Jeandel PY, Kebaili K, Korganow AS, Lambotte O, Lanternier F, Larroche C, Lascaux AS, Le Moigne E, Le Moing V, Lebranchu Y, Lecuit M, Lefevre G, Lemal R, Te VLT, Marie-Cardine A, Silva NM, Masseau A, Massot C, Mazingue F, Merlin E, Michel G, Millot F, Monlibert B, Monpoux F, Moshous D, Mouthon L, Munzer M, Neven B, Nove-Josserand R, Oksenhendler E, Ouachée-Chardin M, Oudot C, Pagnier A, Pasquali JL, Pasquet M, Perel Y, Picard C, Piguet C, Plantaz D, Provot J, Quartier P, Rieux-Laucat F, Roblot P, Roger PM, Rohrlich PS, Rubie H, Salle V, Sarrot-Reynauld F, Servettaz A, Stephan JL, Schleinitz N, Suarez F, Swiader L, Taque S, Thomas C, Tournilhac O, Thumerelle C, Tron F, Vannier JP, Viallard JF.

J Clin Immunol. 2019 Oct;39(7):702-712. doi: 10.1007/s10875-019-00658-9. Epub 2019 Aug 10.

PMID:
31401750
3.

Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Henrickson SE, Andre-Schmutz I, Lagresle-Peyrou C, Deardorff MA, Jyonouchi H, Neven B, Bunin N, Heimall JR.

Front Pediatr. 2019 May 14;7:170. doi: 10.3389/fped.2019.00170. eCollection 2019.

4.

Outcomes of Salvage Haploidentical Transplant with Post-Transplant Cyclophosphamide for Rescuing Graft Failure Patients: a Report on Behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy.

Prata PH, Resche-Rigon M, Blaise D, Socié G, Rohrlich PS, Milpied N, Turlure P, Nguyen S, Sirvent A, Bulabois CE, Berceanu A, Charbonnier A, Chevallier P, Bay JO, Neven B, Jubert C, Mohty M, Rubio MT, Peffault de Latour R.

Biol Blood Marrow Transplant. 2019 Sep;25(9):1798-1802. doi: 10.1016/j.bbmt.2019.05.013. Epub 2019 May 24.

PMID:
31129355
5.

Long-term event-free survival, chimerism and fertility outcomes in 234 patients with sickle-cell anemia younger than 30 years after myeloablative conditioning and matched-sibling transplantation in France.

Bernaudin F, Dalle JH, Bories D, Peffault de Latour R, Robin M, Bertrand Y, Pondarre C, Vannier JP, Neven B, Kuentz M, Maury S, Lutz P, Paillard C, Yakouben K, Thuret I, Galambrun C, Dhedin N, Jubert C, Rohrlich P, Bay JO, Suarez F, Raus N, Vernant JP, Gluckman E, Poirot C, Socié G; Société Française de Greffe de Moelle et de Thérapie Cellulaire.

Haematologica. 2019 May 16. pii: haematol.2018.213207. doi: 10.3324/haematol.2018.213207. [Epub ahead of print]

6.

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.

Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS.

JCI Insight. 2019 Apr 25;5. pii: 127527. doi: 10.1172/jci.insight.127527.

7.

Risk factors and outcomes according to age at transplantation with an HLA-identical sibling for sickle cell disease.

Cappelli B, Volt F, Tozatto-Maio K, Scigliuolo GM, Ferster A, Dupont S, Pinto Simões B, Al-Seraihy A, Aljurf MD, Almohareb F, Belendez C, Matthes S, Dhedin N, Pondarre C, Dalle JH, Bertrand Y, Vannier JP, Kuentz M, Lutz P, Michel G, Rafii H, Neven B, Zecca M, Bader P, Cavazzana M, Labopin M, Locatelli F, Magnani A, Ruggeri A, Rocha V, Bernaudin F, de La Fuente J, Corbacioglu S, Gluckman E.

Haematologica. 2019 Apr 24. pii: haematol.2019.216788. doi: 10.3324/haematol.2019.216788. [Epub ahead of print]

8.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Hadjadj J, Aladjidi N, Fernandes H, Leverger G, Magérus-Chatinet A, Mazerolles F, Stolzenberg MC, Jacques S, Picard C, Rosain J, Fourrage C, Hanein S, Zarhrate M, Pasquet M, Abou Chahla W, Barlogis V, Bertrand Y, Pellier I, Colomb Bottollier E, Fouyssac F, Blouin P, Thomas C, Cheikh N, Dore E, Pondarre C, Plantaz D, Jeziorski E, Millot F, Garcelon N, Ducassou S, Perel Y, Leblanc T, Neven B, Fischer A, Rieux-Laucat F; members of the French Reference Center for Pediatric Autoimmune Cytopenia (CEREVANCE).

Blood. 2019 Jul 4;134(1):9-21. doi: 10.1182/blood-2018-11-887141. Epub 2019 Apr 2.

PMID:
30940614
9.

Ovarian tissue cryopreservation for fertility preservation in 418 girls and adolescents up to 15 years of age facing highly gonadotoxic treatment. Twenty years of experience at a single center.

Poirot C, Brugieres L, Yakouben K, Prades-Borio M, Marzouk F, de Lambert G, Pacquement H, Bernaudin F, Neven B, Paye-Jaouen A, Pondarre C, Dhedin N, Drouineaud V, Chalas C, Martelli H, Michon J, Minard V, Lezeau H, Doz F, Sarnacki S, Philippe-Chomette P, Dufour C, Laurence V, Baruchel A, Wolf JP, Boissel N, Valteau-Couanet D, Dalle JH.

Acta Obstet Gynecol Scand. 2019 May;98(5):630-637. doi: 10.1111/aogs.13616. Epub 2019 Apr 14.

PMID:
30919447
10.

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12.

11.

Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children.

Neven B, Diana JS, Castelle M, Magnani A, Rosain J, Touzot F, Moreira B, Fremond ML, Briand C, Bendavid M, Levy R, Morelle G, Vincent M, Magrin E, Bourget P, Chatenoud L, Picard C, Fischer A, Moshous D, Blanche S.

Biol Blood Marrow Transplant. 2019 Jul;25(7):1363-1373. doi: 10.1016/j.bbmt.2019.03.009. Epub 2019 Mar 12.

PMID:
30876929
12.

Cutaneous granulomas with primary immunodeficiency in children: a report of 17 new patients and a review of the literature.

Leclerc-Mercier S, Moshous D, Neven B, Mahlaoui N, Martin L, Pellier I, Blanche S, Picard C, Fischer A, Perot P, Eloit M, Fraitag S, Bodemer C.

J Eur Acad Dermatol Venereol. 2019 Jul;33(7):1412-1420. doi: 10.1111/jdv.15568. Epub 2019 Apr 15.

PMID:
30869812
13.

Lymphoproliferative disease in patients with Wiskott-Aldrich syndrome: Analysis of the French Registry of Primary Immunodeficiencies.

Cheminant M, Mahlaoui N, Desconclois C, Canioni D, Ysebaert L, Dupré L, Vasconcelos Z, Malphettes M, Moshous D, Neven B, Rohrlich PS, Bernard M, Bertrand Y, Fischer A, Suarez F.

J Allergy Clin Immunol. 2019 Jun;143(6):2311-2315.e7. doi: 10.1016/j.jaci.2019.01.046. Epub 2019 Feb 20. No abstract available.

PMID:
30796981
14.

Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.

Bucciol G, Nicholas SK, Calvo PL, Cant A, Edgar JDM, Español T, Ferrua F, Galicchio M, Gennery AR, Hadzic N, Hanson IC, Kusminsky G, Lange A, Lanternier F, Mahlaoui N, Moshous D, Nademi Z, Neven B, Oleastro M, Porta F, Quarello P, Silva M, Slatter MA, Soncini E, Stefanowicz M, Tandoi F, Teisseyre M, Torgerson TR, Veys P, Weinacht KG, Wolska-Kuśnierz B, Pirenne J, de la Morena MT, Meyts I.

J Allergy Clin Immunol. 2019 May;143(5):1952-1956.e6. doi: 10.1016/j.jaci.2018.12.1013. Epub 2019 Jan 22. No abstract available.

PMID:
30682461
15.

Neurological Involvement in Childhood Evans Syndrome.

Pincez T, Neven B, Le Pointe HD, Varlet P, Fernandes H, Gareton A, Leverger G, Leblanc T, Chambost H, Michel G, Pasquet M, Millot F, Hermine O, Mathian A, Hully M, Zephir H, Hamidou M, Durand JM, Perel Y, Landman-Parker J, Rieux-Laucat F, Aladjidi N.

J Clin Immunol. 2019 Feb;39(2):171-181. doi: 10.1007/s10875-019-0594-3. Epub 2019 Jan 22.

PMID:
30671780
16.

Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia.

Bernaudin F, Verlhac S, Peffault de Latour R, Dalle JH, Brousse V, Petras E, Thuret I, Paillard C, Neven B, Galambrun C, Divialle-Doumdo L, Pondarré C, Guitton C, Missud F, Runel C, Jubert C, Elana G, Ducros-Miralles E, Drain E, Taïeb O, Arnaud C, Kamdem A, Malric A, Elmaleh-Bergès M, Vasile M, Leveillé E, Socié G, Chevret S; DREPAGREFFE Trial Investigators.

JAMA. 2019 Jan 22;321(3):266-276. doi: 10.1001/jama.2018.20059.

17.

Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.

Ferrua F, Galimberti S, Courteille V, Slatter MA, Booth C, Moshous D, Neven B, Blanche S, Cavazzana M, Laberko A, Shcherbina A, Balashov D, Soncini E, Porta F, Al-Mousa H, Al-Saud B, Al-Dhekri H, Arnaout R, Formankova R, Bertrand Y, Lange A, Smart J, Wolska-Kusnierz B, Aquino VM, Dvorak CC, Fasth A, Fouyssac F, Heilmann C, Hoenig M, Schuetz C, Kelečić J, Bredius RGM, Lankester AC, Lindemans CA, Suarez F, Sullivan KE, Albert MH, Kałwak K, Barlogis V, Bhatia M, Bordon V, Czogala W, Alonso L, Dogu F, Gozdzik J, Ikinciogullari A, Kriván G, Ljungman P, Meyts I, Mustillo P, Smith AR, Speckmann C, Sundin M, Keogh SJ, Shaw PJ, Boelens JJ, Schulz AS, Sedlacek P, Veys P, Mahlaoui N, Janda A, Davies EG, Fischer A, Cowan MJ, Gennery AR; SCETIDE, PIDTC, EBMT & ESID IEWP.

J Allergy Clin Immunol. 2019 Jun;143(6):2238-2253. doi: 10.1016/j.jaci.2018.12.1010. Epub 2019 Jan 17.

18.

Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.

Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR.

Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018. Review.

19.

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.

Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, Deripapa E, Sullivan KE, Perelygina L, Eloit M, Neven B, Pérot P, Moshous D, Suarez F, Bodemer C, Bonilla FA, Vaz LE, Krol AL, Klein C, Seppanen M, Nugent DJ, Singh J, Ochs HD.

J Clin Immunol. 2019 Jan;39(1):81-89. doi: 10.1007/s10875-018-0581-0. Epub 2019 Jan 3.

PMID:
30607663
20.

JAK 1/2 Blockade in MDA5 Gain-of-Function.

McLellan KE, Martin N, Davidson JE, Cordeiro N, Oates BD, Neven B, Rice GI, Crow YJ.

J Clin Immunol. 2018 Nov;38(8):844-846. doi: 10.1007/s10875-018-0563-2. Epub 2018 Nov 15. No abstract available.

PMID:
30443754
21.

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2019 Jan;51(1):196. doi: 10.1038/s41588-018-0304-8.

PMID:
30429576
22.

Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency.

Aydin SE, Freeman AF, Al-Herz W, Al-Mousa HA, Arnaout RK, Aydin RC, Barlogis V, Belohradsky BH, Bonfim C, Bredius RG, Chu JI, Ciocarlie OC, Doğu F, Gaspar HB, Geha RS, Gennery AR, Hauck F, Hawwari A, Hickstein DD, Hoenig M, Ikinciogullari A, Klein C, Kumar A, Ifversen MRS, Matthes S, Metin A, Neven B, Pai SY, Parikh SH, Picard C, Renner ED, Sanal Ö, Schulz AS, Schuster F, Shah NN, Shereck EB, Slatter MA, Su HC, van Montfrans J, Woessmann W, Ziegler JB, Albert MH; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies.

J Allergy Clin Immunol Pract. 2019 Mar;7(3):848-855. doi: 10.1016/j.jaip.2018.10.035. Epub 2018 Nov 2.

PMID:
30391550
23.

Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.

Duclaux-Loras R, Charbit-Henrion F, Neven B, Nowak J, Collardeau-Frachon S, Malcus C, Ray PF, Moshous D, Beltrand J, Goulet O, Cerf-Bensussan N, Lachaux A, Rieux-Laucat F, Ruemmele FM.

Clin Transl Gastroenterol. 2018 Nov 2;9(10):201. doi: 10.1038/s41424-018-0064-x.

24.

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome.

Gayden T, Sepulveda FE, Khuong-Quang DA, Pratt J, Valera ET, Garrigue A, Kelso S, Sicheri F, Mikael LG, Hamel N, Bajic A, Dali R, Deshmukh S, Dervovic D, Schramek D, Guerin F, Taipale M, Nikbakht H, Majewski J, Moshous D, Charlebois J, Abish S, Bole-Feysot C, Nitschke P, Bader-Meunier B, Mitchell D, Thieblemont C, Battistella M, Gravel S, Nguyen VH, Conyers R, Diana JS, McCormack C, Prince HM, Besnard M, Blanche S, Ekert PG, Fraitag S, Foulkes WD, Fischer A, Neven B, Michonneau D, de Saint Basile G, Jabado N.

Nat Genet. 2018 Dec;50(12):1650-1657. doi: 10.1038/s41588-018-0251-4. Epub 2018 Oct 29. Erratum in: Nat Genet. 2018 Nov 14;:.

PMID:
30374066
25.

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group, Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N.

PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018.

26.

A child with severe juvenile dermatomyositis treated with ruxolitinib.

Aeschlimann FA, Frémond ML, Duffy D, Rice GI, Charuel JL, Bondet V, Saire E, Neven B, Bodemer C, Balu L, Gitiaux C, Crow YJ, Bader-Meunier B.

Brain. 2018 Nov 1;141(11):e80. doi: 10.1093/brain/awy255. No abstract available. Erratum in: Brain. 2019 Jan 1;142(1):e3.

PMID:
30335130
27.

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.

J Allergy Clin Immunol. 2019 Feb;143(2):775-778.e6. doi: 10.1016/j.jaci.2018.09.021. Epub 2018 Oct 10. No abstract available.

PMID:
30312711
28.

Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency.

Briand C, Frémond ML, Bessis D, Carbasse A, Rice GI, Bondet V, Duffy D, Chatenoud L, Blanche S, Crow YJ, Neven B.

Ann Rheum Dis. 2019 Mar;78(3):431-433. doi: 10.1136/annrheumdis-2018-214037. Epub 2018 Oct 3. No abstract available.

PMID:
30282666
29.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A.

Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25.

PMID:
30254128
30.

Towards a new set of classification criteria for PFAPA syndrome.

Vanoni F, Caorsi R, Aeby S, Cochard M, Antón J, Berg S, Brik R, Dolezalova P, Koné-Paut I, Neven B, Ozen S, Pillet P, Stojanov S, Wouters C, Gattorno M, Hofer M.

Pediatr Rheumatol Online J. 2018 Sep 21;16(1):60. doi: 10.1186/s12969-018-0277-2.

31.

A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti.

Atallah V, Meot M, Kossorotoff M, Galmiche-Rolland L, Lardeux C, Neven B, Bodemer C, Bonnet D.

Pulm Circ. 2018 Oct-Dec;8(4):2045894018793983. doi: 10.1177/2045894018793983. Epub 2018 Jul 23.

32.

Outcome of domino hematopoietic stem cell transplantation in human subjects: An international case series.

Belderbos ME, Gennery AR, Dvorak CC, Blok HJ, Eikema DJ, Silva JMF, Veys P, Neven B, Buckley R, Cole T, Cowan MJ, Goebel WS, Hoenig M, Kuo CY, Stiehm ER, Wynn R, Bierings M; Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the Primary Immune Deficiency Treatment Consortium.

J Allergy Clin Immunol. 2018 Nov;142(5):1628-1631.e4. doi: 10.1016/j.jaci.2018.06.030. Epub 2018 Jul 5. No abstract available.

PMID:
29981805
33.

The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.

Rieux-Laucat F, Magérus-Chatinet A, Neven B.

J Clin Immunol. 2018 Jul;38(5):558-568. doi: 10.1007/s10875-018-0523-x. Epub 2018 Jun 17. Review.

PMID:
29911256
34.

Model of population pharmacokinetics of cidofovir in immunocompromised children with cytomegalovirus and adenovirus infection.

Neant N, Klifa R, Bouazza N, Moshous D, Neven B, Leruez-Ville M, Blanche S, Treluyer JM, Hirt D, Frange P.

J Antimicrob Chemother. 2018 Sep 1;73(9):2422-2429. doi: 10.1093/jac/dky192.

PMID:
29860512
35.

Epithelial barrier dysfunction in desmoglein-1 deficiency.

Polivka L, Hadj-Rabia S, Bal E, Leclerc-Mercier S, Madrange M, Hamel Y, Bonnet D, Mallet S, Lepidi H, Ovaert C, Barbet P, Dupont C, Neven B, Munnich A, Godsel LM, Campeotto F, Weil R, Laplantine E, Marchetto S, Borg JP, Weis WI, Casanova JL, Puel A, Green KJ, Bodemer C, Smahi A.

J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27. No abstract available.

36.

Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation.

Mazerolles F, Stolzenberg MC, Pelle O, Picard C, Neven B, Fischer A, Magerus-Chatinet A, Rieux-Laucat F.

Front Immunol. 2018 Apr 9;9:718. doi: 10.3389/fimmu.2018.00718. eCollection 2018.

37.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

38.

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations.

Besnard C, Levy E, Aladjidi N, Stolzenberg MC, Magerus-Chatinet A, Alibeu O, Nitschke P, Blanche S, Hermine O, Jeziorski E, Landman-Parker J, Leverger G, Mahlaoui N, Michel G, Pellier I, Suarez F, Thuret I, de Saint-Basile G, Picard C, Fischer A, Neven B, Rieux-Laucat F, Quartier P; Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE).

Clin Immunol. 2018 Mar;188:52-57. doi: 10.1016/j.clim.2017.12.009. Epub 2018 Jan 10.

PMID:
29330115
39.

Lymphadenopathy driven by TCR-Vγ8Vδ1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome.

Vavassori S, Galson JD, Trück J, van den Berg A, Tamminga RYJ, Magerus-Chatinet A, Pellé O, Camenisch Gross U, Marques Maggio E, Prader S, Opitz L, Nüesch U, Mauracher A, Volkmer B, Speer O, Suda L, Röthlisberger B, Zimmermann DR, Müller R, Diepstra A, Visser L, Haralambieva E, Neven B, Rieux-Laucat F, Pachlopnik Schmid J.

Blood Adv. 2017 Jun 22;1(15):1101-1106. doi: 10.1182/bloodadvances.2017006411. eCollection 2017 Jun 27.

40.

Successful haematopoietic stem cell transplantation in a case of pulmonary alveolar proteinosis due to GM-CSF receptor deficiency.

Frémond ML, Hadchouel A, Schweitzer C, Berteloot L, Bruneau J, Bonnet C, Cros G, Briand C, Magnani A, Pochon C, Delacourt C, Cavazzana M, Moshous D, Fischer A, Blanche S, Blic J, Neven B.

Thorax. 2018 Jun;73(6):590-592. doi: 10.1136/thoraxjnl-2017-211076. Epub 2017 Dec 20. No abstract available.

PMID:
29263235
41.

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP, Tesser A, Bartok E, Rice GI, Della Mina E, Depp M, Beitz B, Bondet V, Cagnard N, Duffy D, Dussiot M, Frémond ML, Gattorno M, Guillem F, Kitabayashi N, Porcheray F, Rieux-Laucat F, Seabra L, Uggenti C, Volpi S, Zeef LAH, Alyanakian MA, Beltrand J, Bianco AM, Boddaert N, Brouzes C, Candon S, Caorsi R, Charbit M, Fabre M, Faletra F, Girard M, Harroche A, Hartmann E, Lasne D, Marcuzzi A, Neven B, Nitschke P, Pascreau T, Pastore S, Picard C, Picco P, Piscianz E, Polak M, Quartier P, Rabant M, Stocco G, Taddio A, Uettwiller F, Valencic E, Vozzi D, Hartmann G, Barchet W, Hermine O, Bader-Meunier B, Tommasini A, Crow YJ.

Nat Commun. 2017 Dec 19;8(1):2176. doi: 10.1038/s41467-017-01932-3.

42.

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study.

Barzaghi F, Amaya Hernandez LC, Neven B, Ricci S, Kucuk ZY, Bleesing JJ, Nademi Z, Slatter MA, Ulloa ER, Shcherbina A, Roppelt A, Worth A, Silva J, Aiuti A, Murguia-Favela L, Speckmann C, Carneiro-Sampaio M, Fernandes JF, Baris S, Ozen A, Karakoc-Aydiner E, Kiykim A, Schulz A, Steinmann S, Notarangelo LD, Gambineri E, Lionetti P, Shearer WT, Forbes LR, Martinez C, Moshous D, Blanche S, Fisher A, Ruemmele FM, Tissandier C, Ouachee-Chardin M, Rieux-Laucat F, Cavazzana M, Qasim W, Lucarelli B, Albert MH, Kobayashi I, Alonso L, Diaz De Heredia C, Kanegane H, Lawitschka A, Seo JJ, Gonzalez-Vicent M, Diaz MA, Goyal RK, Sauer MG, Yesilipek A, Kim M, Yilmaz-Demirdag Y, Bhatia M, Khlevner J, Richmond Padilla EJ, Martino S, Montin D, Neth O, Molinos-Quintana A, Valverde-Fernandez J, Broides A, Pinsk V, Ballauf A, Haerynck F, Bordon V, Dhooge C, Garcia-Lloret ML, Bredius RG, Kałwak K, Haddad E, Seidel MG, Duckers G, Pai SY, Dvorak CC, Ehl S, Locatelli F, Goldman F, Gennery AR, Cowan MJ, Roncarolo MG, Bacchetta R; Primary Immune Deficiency Treatment Consortium (PIDTC) and the Inborn Errors Working Party (IEWP) of the European Society for Blood and Marrow Transplantation (EBMT).

J Allergy Clin Immunol. 2018 Mar;141(3):1036-1049.e5. doi: 10.1016/j.jaci.2017.10.041. Epub 2017 Dec 11.

43.

Burden of Poor Health Conditions and Quality of Life in 656 Children with Primary Immunodeficiency.

Barlogis V, Mahlaoui N, Auquier P, Fouyssac F, Pellier I, Vercasson C, Allouche M, De Azevedo CB, Moshous D, Neven B, Pasquet M, Jeziorski E, Aladjidi N, Thomas C, Gandemer V, Mazingue F, Picard C, Blanche S, Michel G, Fischer A.

J Pediatr. 2018 Mar;194:211-217.e5. doi: 10.1016/j.jpeds.2017.10.029. Epub 2017 Dec 6.

PMID:
29198545
44.

A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry.

Papa R, Doglio M, Lachmann HJ, Ozen S, Frenkel J, Simon A, Neven B, Kuemmerle-Deschner J, Ozgodan H, Caorsi R, Federici S, Finetti M, Trachana M, Brunner J, Bezrodnik L, Pinedo Gago MC, Maggio MC, Tsitsami E, Al Suwairi W, Espada G, Shcherbina A, Aksu G, Ruperto N, Martini A, Ceccherini I, Gattorno M; Paediatric Rheumatology International Trials Organisation (PRINTO) and the Eurofever Project.

Orphanet J Rare Dis. 2017 Oct 18;12(1):167. doi: 10.1186/s13023-017-0720-3.

45.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017.

46.

Abnormalities of T-cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.

Rowe JH, Stadinski BD, Henderson LA, Ott de Bruin L, Delmonte O, Lee YN, de la Morena MT, Goyal RK, Hayward A, Huang CH, Kanariou M, King A, Kuijpers TW, Soh JY, Neven B, Walter JE, Huseby ES, Notarangelo LD.

J Allergy Clin Immunol. 2017 Dec;140(6):1739-1743.e7. doi: 10.1016/j.jaci.2017.08.001. Epub 2017 Aug 31. No abstract available.

47.

Design of the DREPAGREFFE trial: A prospective controlled multicenter study evaluating the benefit of genoidentical hematopoietic stem cell transplantation over chronic transfusion in sickle cell anemia children detected to be at risk of stroke by transcranial Doppler (NCT 01340404).

Chevret S, Verlhac S, Ducros-Miralles E, Dalle JH, de Latour RP, de Montalembert M, Benkerrou M, Pondarré C, Thuret I, Guitton C, Lesprit E, Etienne-Julan M, Elana G, Vannier JP, Lutz P, Neven B, Galambrun C, Paillard C, Runel C, Jubert C, Arnaud C, Kamdem A, Brousse V, Missud F, Petras M, Doumdo-Divialle L, Berger C, Fréard F, Taieb O, Drain E, Elmaleh M, Vasile M, Khelif Y, Bernaudin M, Chadebech P, Pirenne F, Socié G, Bernaudin F.

Contemp Clin Trials. 2017 Nov;62:91-104. doi: 10.1016/j.cct.2017.08.008. Epub 2017 Aug 15.

PMID:
28821470
48.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 10;8:1244.

49.

Protein kinase D at the Golgi controls NLRP3 inflammasome activation.

Zhang Z, Meszaros G, He WT, Xu Y, de Fatima Magliarelli H, Mailly L, Mihlan M, Liu Y, Puig Gámez M, Goginashvili A, Pasquier A, Bielska O, Neven B, Quartier P, Aebersold R, Baumert TF, Georgel P, Han J, Ricci R.

J Exp Med. 2017 Sep 4;214(9):2671-2693. doi: 10.1084/jem.20162040. Epub 2017 Jul 17.

50.

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C.

Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5.

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