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Items: 1 to 50 of 279

1.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM.

Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27.

2.

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.

Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lönnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM.

Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.

3.

A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

Pacheco-Cuéllar G, Gauthier J, Désilets V, Lachance C, Lemire-Girard M, Rypens F, Le Deist F, Decaluwe H, Duval M, Bouron-Dal Soglio D, Kokta V, Haddad É, Campeau PM.

J Bone Miner Res. 2017 Sep;32(9):1853-1859. doi: 10.1002/jbmr.3173. Epub 2017 Jun 26.

4.

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.

Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tétreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE; Care4Rare Canada Consortium, Kinoshita T, Dyment DA, Boycott KM, Campeau PM.

Hum Mol Genet. 2017 May 1;26(9):1706-1715. doi: 10.1093/hmg/ddx077.

PMID:
28334793
5.

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O.

J Med Genet. 2017 Mar;54(3):196-201. doi: 10.1136/jmedgenet-2016-104202. Epub 2016 Sep 30.

PMID:
27694521
6.

Human mesenchymal stromal cell-secreted lactate induces M2-macrophage differentiation by metabolic reprogramming.

Selleri S, Bifsha P, Civini S, Pacelli C, Dieng MM, Lemieux W, Jin P, Bazin R, Patey N, Marincola FM, Moldovan F, Zaouter C, Trudeau LE, Benabdhalla B, Louis I, Beauséjour C, Stroncek D, Le Deist F, Haddad E.

Oncotarget. 2016 May 24;7(21):30193-210. doi: 10.18632/oncotarget.8623.

7.

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, Dobrin R, Brodmerkel C, Snapper SB, Klein C, Brumell JH, Hu M, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Deslandres C, Griffiths AM, Gaskin KJ, Uhlig HH, Schadt EE, Muise AM.

Gastroenterology. 2016 May;150(5):1196-1207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4.

8.

A case of C3 glomerulonephritis successfully treated with eculizumab.

Payette A, Patey N, Dragon-Durey MA, Frémeaux-Bacchi V, Le Deist F, Lapeyraque AL.

Pediatr Nephrol. 2015 Jun;30(6):1033-7. doi: 10.1007/s00467-015-3061-2. Epub 2015 Mar 22.

PMID:
25796589
9.

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

Fernandez I, Patey N, Marchand V, Birlea M, Maranda B, Haddad E, Decaluwe H, Le Deist F.

Medicine (Baltimore). 2014 Dec;93(29):e327. doi: 10.1097/MD.0000000000000327.

10.

Impaired interferon-alpha production by plasmacytoid dendritic cells after cord blood transplantation in children: implication for post-transplantation toll-like receptor ligand-based immunotherapy.

Charrier E, Cordeiro P, Brito RM, Harnois M, Mezziani S, Herblot S, Le Deist F, Duval M.

Biol Blood Marrow Transplant. 2014 Oct;20(10):1501-7. doi: 10.1016/j.bbmt.2014.06.007. Epub 2014 Aug 14.

11.

ICON: the early diagnosis of congenital immunodeficiencies.

Routes J, Abinun M, Al-Herz W, Bustamante J, Condino-Neto A, De La Morena MT, Etzioni A, Gambineri E, Haddad E, Kobrynski L, Le Deist F, Nonoyama S, Oliveira JB, Perez E, Picard C, Rezaei N, Sleasman J, Sullivan KE, Torgerson T.

J Clin Immunol. 2014 May;34(4):398-424. doi: 10.1007/s10875-014-0003-x. Epub 2014 Mar 12. Review.

PMID:
24619621
12.

Ceftazidime-induced drug reaction with eosinophilia and systemic symptoms (DRESS) complicated by hemophagocytic lymphohistiocytosis.

Picard M, Fernandez MI, Des Roches A, Bégin P, Paradis J, Paradis L, Le Deist F.

J Allergy Clin Immunol Pract. 2013 Jul-Aug;1(4):409-12. doi: 10.1016/j.jaip.2013.04.001. Epub 2013 May 27. No abstract available.

PMID:
24565550
13.

Implication of different effector mechanisms by cord blood-derived and peripheral blood-derived cytokine-induced killer cells to kill precursor B acute lymphoblastic leukemia cell lines.

Durrieu L, Lemieux W, Dieng MM, Fontaine F, Duval M, Le Deist F, Haddad E.

Cytotherapy. 2014 Jun;16(6):845-56. doi: 10.1016/j.jcyt.2013.12.010. Epub 2014 Feb 12.

PMID:
24529554
14.

Invasive group A Streptococcus disease in French-Canadian children is not associated with a defect in MyD88/IRAK4-pathway.

Fernandez I, Brito RM, Bidet P, Rallu F, Laferrière C, Ovetchkine P, Le Deist F.

Allergy Asthma Clin Immunol. 2014 Feb 5;10(1):9. doi: 10.1186/1710-1492-10-9.

15.

Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans.

Casals F, Hodgkinson A, Hussin J, Idaghdour Y, Bruat V, de Maillard T, Grenier JC, Gbeha E, Hamdan FF, Girard S, Spinella JF, Larivière M, Saillour V, Healy J, Fernández I, Sinnett D, Michaud JL, Rouleau GA, Haddad E, Le Deist F, Awadalla P.

PLoS Genet. 2013;9(9):e1003815. doi: 10.1371/journal.pgen.1003815. Epub 2013 Sep 26. Erratum in: PLoS Genet. 2014 Feb;10(2):e1004260. Grenier, Jean-Cristophe [corrected to Grenier, Jean-Christophe].

16.

Cord blood-derived and peripheral blood-derived cytokine-induced killer cells are sensitive to Fas-mediated apoptosis.

Durrieu L, Dieng MM, Le Deist F, Haddad E.

Biol Blood Marrow Transplant. 2013 Sep;19(9):1407-11. doi: 10.1016/j.bbmt.2013.07.007. Epub 2013 Jul 12.

17.

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS.

J Allergy Clin Immunol. 2013 Jul;132(1):151-8. doi: 10.1016/j.jaci.2013.04.047. Epub 2013 May 31. Erratum in: J Allergy Clin Immunol. 2013 Sep;132(3):773. J Allergy Clin Immunol. 2013 Sep;132(3):773.

18.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Samuels ME, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N, Decaluwe H, Gosselin I, Haddad E, Hodgkinson A, Idaghdour Y, Marchand V, Michaud JL, Rodrigue MA, Desjardins S, Dubois S, Le Deist F, Awadalla P, Raymond V, Maranda B.

J Med Genet. 2013 May;50(5):324-9. doi: 10.1136/jmedgenet-2012-101483. Epub 2013 Feb 19.

19.

Fatal Mycobacterium colombiense/cytomegalovirus coinfection associated with acquired immunodeficiency due to autoantibodies against interferon gamma: a case report.

Poulin S, Corbeil C, Nguyen M, St-Denis A, Côté L, Le Deist F, Carignan A.

BMC Infect Dis. 2013 Jan 22;13:24. doi: 10.1186/1471-2334-13-24.

20.

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.

Bégin P, Patey N, Mueller P, Rasquin A, Sirard A, Klein C, Haddad E, Drouin É, Le Deist F.

J Clin Immunol. 2013 Apr;33(3):520-5. doi: 10.1007/s10875-012-9833-6. Epub 2012 Nov 20.

PMID:
23180359
21.

Cord-blood-derived mesenchymal stromal cells downmodulate CD4+ T-cell activation by inducing IL-10-producing Th1 cells.

Selleri S, Dieng MM, Nicoletti S, Louis I, Beausejour C, Le Deist F, Haddad E.

Stem Cells Dev. 2013 Apr 1;22(7):1063-75. doi: 10.1089/scd.2012.0315. Epub 2013 Jan 4.

22.

Reconstitution of maturating and regulatory lymphocyte subsets after cord blood and BMT in children.

Charrier E, Cordeiro P, Brito RM, Mezziani S, Herblot S, Le Deist F, Duval M.

Bone Marrow Transplant. 2013 Mar;48(3):376-82. doi: 10.1038/bmt.2012.176. Epub 2012 Oct 15.

PMID:
23064038
23.

Reconstitution of protective immune responses against cytomegalovirus and varicella zoster virus does not require disease development in pediatric recipients of umbilical cord blood transplantation.

Merindol N, Salem Fourati I, Brito RM, Grenier AJ, Charrier E, Cordeiro P, Caty M, Mezziani S, Malette B, Duval M, Alfieri C, Ovetchkine P, Le Deist F, Soudeyns H.

J Immunol. 2012 Nov 15;189(10):5016-28. doi: 10.4049/jimmunol.1201759. Epub 2012 Oct 3.

24.

Human interferon-alpha increases the cytotoxic effect of CD56(+) cord blood-derived cytokine-induced killer cells on human B-acute lymphoblastic leukemia cell lines.

Durrieu L, Gregoire-Gauthier J, Dieng MM, Fontaine F, le Deist F, Haddad E.

Cytotherapy. 2012 Nov;14(10):1245-57. doi: 10.3109/14653249.2012.714864. Epub 2012 Sep 14.

PMID:
22974386
25.

Ataxia-telangiectasia presenting with a novel immunodeficiency.

Perreault S, Bernard G, Lortie A, Le Deist F, Decaluwe H.

Pediatr Neurol. 2012 May;46(5):322-4. doi: 10.1016/j.pediatrneurol.2012.02.027.

PMID:
22520355
26.

[Immunodeficiencies and pathologies associated with mutations in STIM/ORAI, a membrane complex in the heart of calcium signalling].

Le Deist F, Capiod T.

Med Sci (Paris). 2011 Aug-Sep;27(8-9):737-45. doi: 10.1051/medsci/2011278016. Epub 2011 Aug 31. French.

27.

Eculizumab in severe Shiga-toxin-associated HUS.

Lapeyraque AL, Malina M, Fremeaux-Bacchi V, Boppel T, Kirschfink M, Oualha M, Proulx F, Clermont MJ, Le Deist F, Niaudet P, Schaefer F.

N Engl J Med. 2011 Jun 30;364(26):2561-3. doi: 10.1056/NEJMc1100859. Epub 2011 May 25. No abstract available.

PMID:
21612462
28.

Secondary pulmonary alveolar proteinosis after unrelated cord blood hematopoietic cell transplantation.

Ansari M, Rougemont AL, Le Deist F, Ozsahin H, Duval M, Champagne MA, Fournet JC.

Pediatr Transplant. 2012 Aug;16(5):E146-9. doi: 10.1111/j.1399-3046.2011.01487.x. Epub 2011 Mar 13.

PMID:
21395954
29.

High prevalence of primary immune deficiencies in children with autoimmune disorders.

Barsalou J, Saint-Cyr C, Drouin E, Le Deist F, Haddad E.

Clin Exp Rheumatol. 2011 Jan-Feb;29(1):125-30. Epub 2011 Feb 23.

PMID:
21345299
30.

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S.

Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30.

31.

21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison's disease.

Rottembourg D, Deal C, Lambert M, Mallone R, Carel JC, Lacroix A, Caillat-Zucman S, le Deist F.

J Autoimmun. 2010 Dec;35(4):309-15. doi: 10.1016/j.jaut.2010.07.001. Epub 2010 Aug 3.

PMID:
20685079
32.

ZAP70: a master regulator of adaptive immunity.

Fischer A, Picard C, Chemin K, Dogniaux S, le Deist F, Hivroz C.

Semin Immunopathol. 2010 Jun;32(2):107-16. doi: 10.1007/s00281-010-0196-x. Epub 2010 Feb 5. Review.

PMID:
20135127
33.

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G.

J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2.

34.

Length of storage and in vitro immunomodulation induced by prestorage leukoreduced red blood cells.

Karam O, Tucci M, Toledano BJ, Robitaille N, Cousineau J, Thibault L, Lacroix J, Le Deist F.

Transfusion. 2009 Nov;49(11):2326-34. doi: 10.1111/j.1537-2995.2009.02319.x. Epub 2009 Jul 17.

PMID:
19624600
35.

Hypomorphic mutation of ZAP70 in human results in a late onset immunodeficiency and no autoimmunity.

Picard C, Dogniaux S, Chemin K, Maciorowski Z, Lim A, Mazerolles F, Rieux-Laucat F, Stolzenberg MC, Debre M, Magny JP, Le Deist F, Fischer A, Hivroz C.

Eur J Immunol. 2009 Jul;39(7):1966-76. doi: 10.1002/eji.200939385.

36.

Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.

McCusker C, Hotte S, Le Deist F, Hirschfeld AF, Mitchell D, Nguyen VH, Gagnon R, Mazer B, Turvey SE, Jabado N.

Clin Immunol. 2009 Jun;131(3):447-55. doi: 10.1016/j.clim.2009.01.014. Epub 2009 Feb 25.

PMID:
19246248
37.

Hematopoietic engraftment of XLA bone marrow CD34(+) cells in NOG/SCID mice.

Moreau T, Bardin F, Barlogis V, Le Deist F, Chabannon C, Tonnelle C.

Cytotherapy. 2009;11(2):198-205. doi: 10.1080/14653240802716616.

PMID:
19235603
38.

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.

Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, Arkwright PD, Bader-Meunier B, Barbot J, Blanche S, Casanova JL, Debré M, Ferster A, Fieschi C, Florkin B, Galambrun C, Hermine O, Lambotte O, Solary E, Thomas C, Le Deist F, Picard C, Fischer A, Rieux-Laucat F.

Blood. 2009 Mar 26;113(13):3027-30. doi: 10.1182/blood-2008-09-179630. Epub 2009 Jan 27.

39.

Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency.

Neven B, Leroy S, Decaluwe H, Le Deist F, Picard C, Moshous D, Mahlaoui N, Debré M, Casanova JL, Dal Cortivo L, Madec Y, Hacein-Bey-Abina S, de Saint Basile G, de Villartay JP, Blanche S, Cavazzana-Calvo M, Fischer A.

Blood. 2009 Apr 23;113(17):4114-24. doi: 10.1182/blood-2008-09-177923. Epub 2009 Jan 23.

40.

Renal granuloma and immunoglobulin M-complex glomerulonephritis: a case of common variable immunodeficiency?

Benoit G, Lapeyraque AL, Sartelet H, Saint-Cyr C, Le Deist F, Haddad E.

Pediatr Nephrol. 2009 Mar;24(3):601-4. doi: 10.1007/s00467-008-0958-z. Epub 2008 Aug 12.

PMID:
18696117
41.

Chronic active gastritis in X-linked lymphoproliferative disease.

Rougemont AL, Fournet JC, Martin SR, de Saint-Basile G, Latour S, Primeau MN, Rubbia-Brandt L, Haddad E, Le Deist F.

Am J Surg Pathol. 2008 Feb;32(2):323-8. doi: 10.1097/PAS.0b013e318141fca1.

PMID:
18223336
42.

Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation.

Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, Thrasher AJ, Mazzolari E, Slatter MA, Le Deist F, Blanche S, Veys P, Fasth A, Bredius R, Sedlacek P, Wulffraat N, Ortega J, Heilmann C, O'Meara A, Wachowiak J, Kalwak K, Matthes-Martin S, Gungor T, Ikinciogullari A, Landais P, Cant AJ, Friedrich W, Fischer A.

Blood. 2008 Jan 1;111(1):439-45. Epub 2007 Sep 27.

43.

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes.

Mateo V, Ménager M, de Saint-Basile G, Stolzenberg MC, Roquelaure B, André N, Florkin B, le Deist F, Picard C, Fischer A, Rieux-Laucat F.

Blood. 2007 Dec 15;110(13):4285-92. Epub 2007 Aug 27.

44.

Is xenotransplantation of embryonic stem cells a realistic option?

Bonnevie L, Bel A, Sabbah L, Al Attar N, Pradeau P, Weill B, Le Deist F, Bellamy V, Peyrard S, Ménard C, Desnos M, Bruneval P, Binder P, Hagège AA, Pucéat M, Menasché P.

Transplantation. 2007 Feb 15;83(3):333-5.

PMID:
17297408
45.

[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies].

Le Deist F, de Saint Basile G, Rieux-Laucat F, Hivroz C, Fischer A.

Med Sci (Paris). 2007 Feb;23(2):161-6. Review. French.

46.

Long-term T-cell reconstitution after hematopoietic stem-cell transplantation in primary T-cell-immunodeficient patients is associated with myeloid chimerism and possibly the primary disease phenotype.

Cavazzana-Calvo M, Carlier F, Le Deist F, Morillon E, Taupin P, Gautier D, Radford-Weiss I, Caillat-Zucman S, Neven B, Blanche S, Cheynier R, Fischer A, Hacein-Bey-Abina S.

Blood. 2007 May 15;109(10):4575-81. Epub 2007 Feb 1.

47.

Mycophenolate mofetil as an alternate immunosuppressor for autoimmune lymphoproliferative syndrome.

Kossiva L, Theodoridou M, Mostrou G, Vrachnou E, Le Deist F, Rieux-Laucat F, Kanariou MG.

J Pediatr Hematol Oncol. 2006 Dec;28(12):824-6.

PMID:
17164652
48.

Familial NK cell deficiency associated with impaired IL-2- and IL-15-dependent survival of lymphocytes.

Eidenschenk C, Jouanguy E, Alcaïs A, Mention JJ, Pasquier B, Fleckenstein IM, Puel A, Gineau L, Carel JC, Vivier E, Le Deist F, Casanova JL.

J Immunol. 2006 Dec 15;177(12):8835-43.

49.

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S.

Nature. 2006 Nov 2;444(7115):110-4.

PMID:
17080092
50.

[Defect in lytic granule exocytosis: several causes, a same effect].

Ménasché G, Ménager M, Le Deist F, Fischer A, de Saint Basile G.

Med Sci (Paris). 2006 Aug-Sep;22(8-9):733-8. Review. French.

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