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Items: 23

1.

A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.

Lagresle-Peyrou C, Olichon A, Sadek H, Roche P, Tardy C, Da Silva C, Garrigue A, Fischer A, Moshous D, Collette Y, Picard C, Casanova JL, André I, Cavazzana M.

Haematologica. 2020 Jan 9. pii: haematol.2019.230250. doi: 10.3324/haematol.2019.230250. [Epub ahead of print]

2.

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
3.

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
4.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

Palmer EE, Kumar R, Gordon CT, Shaw M, Hubert L, Carroll R, Rio M, Murray L, Leffler M, Dudding-Byth T, Oufadem M, Lalani SR, Lewis AM, Xia F, Tam A, Webster R, Brammah S, Filippini F, Pollard J, Spies J, Minoche AE, Cowley MJ, Risen S, Powell-Hamilton NN, Tusi JE, Immken L, Nagakura H, Bole-Feysot C, Nitschké P, Garrigue A, de Saint Basile G, Kivuva E; DDD Study, Scott RH, Rendon A, Munnich A, Newman W, Kerr B, Besmond C, Rosenfeld JA, Amiel J, Field M, Gecz J.

Am J Hum Genet. 2017 Dec 7;101(6):995-1005. doi: 10.1016/j.ajhg.2017.10.009. Epub 2017 Nov 30.

5.

Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Maschalidi S, Sepulveda FE, Garrigue A, Fischer A, de Saint Basile G.

Blood. 2016 Jul 7;128(1):60-71. doi: 10.1182/blood-2016-02-700013. Epub 2016 May 24.

PMID:
27222478
6.

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.

Sepulveda FE, Garrigue A, Maschalidi S, Garfa-Traore M, Ménasché G, Fischer A, de Saint Basile G.

Blood. 2016 Apr 28;127(17):2113-21. doi: 10.1182/blood-2015-12-688960. Epub 2016 Feb 10.

PMID:
26864340
7.

Overview and expert assessment of off-label use of misoprostol in obstetrics and gynaecology: review and report by the Collège national des gynécologues obstétriciens français.

Marret H, Simon E, Beucher G, Dreyfus M, Gaudineau A, Vayssière C, Lesavre M, Pluchon M, Winer N, Fernandez H, Aubert J, Bejan-Angoulvant T, Jonville-Bera AP, Clouqueur E, Houfflin-Debarge V, Garrigue A, Pierre F; Collège national des gynécologues obstétriciens français.

Eur J Obstet Gynecol Reprod Biol. 2015 Apr;187:80-4. doi: 10.1016/j.ejogrb.2015.01.018. Epub 2015 Jan 31. Review.

PMID:
25701235
8.

A novel immunoregulatory role for NK-cell cytotoxicity in protection from HLH-like immunopathology in mice.

Sepulveda FE, Maschalidi S, Vosshenrich CA, Garrigue A, Kurowska M, Ménasche G, Fischer A, Di Santo JP, de Saint Basile G.

Blood. 2015 Feb 26;125(9):1427-34. doi: 10.1182/blood-2014-09-602946. Epub 2014 Dec 18.

9.

Mutating RBF can enhance its pro-apoptotic activity and uncovers a new role in tissue homeostasis.

Milet C, Rincheval-Arnold A, Moriéras A, Clavier A, Garrigue A, Mignotte B, Guénal I.

PLoS One. 2014 Aug 4;9(8):e102902. doi: 10.1371/journal.pone.0102902. eCollection 2014.

10.

[Misoprostol: off-label use in the treatment of post-partum hemorrhage].

Garrigue A, Pierre F.

J Gynecol Obstet Biol Reprod (Paris). 2014 Feb;43(2):179-89. doi: 10.1016/j.jgyn.2013.11.011. Epub 2014 Jan 20. Review. French.

11.

[Status and expertise of off-label use of misoprostol in obstetrics and gynecology in France: study by CNGOF (short text)].

Marret H, Simon E, Beucher G, Dreyfus M, Gaudineau A, Vayssière C, Lesavre M, Pluchon M, Winer N, Fernandez H, Aubert J, Bejan-Angoulvant T, Jonville-Bera AP, Clouqueur E, Houfflin-Debarge V, Garrigue A, Pierre F; CNGOF.

J Gynecol Obstet Biol Reprod (Paris). 2014 Feb;43(2):107-13. doi: 10.1016/j.jgyn.2013.11.005. Epub 2014 Jan 14. French. No abstract available.

12.

Evaluation of the two intraoperative examination methods for sentinel lymph node assessment: a multicentric and retrospective study on more than 2,000 nodes.

Arlicot C, Louarn AL, Arbion F, Leveque J, Lorand S, Kinn J, Chaze B, Garrigue A, Body G.

Anticancer Res. 2013 Mar;33(3):1045-52.

PMID:
23482780
13.

Cytokines and culture medium have a major impact on human in vitro T-cell differentiation.

Six EM, Benjelloun F, Garrigue A, Bonhomme D, Morillon E, Rouiller J, Cacavelli L, Blondeau J, Beldjord K, Hacein-Bey-Abina S, Cavazzana-Calvo M, André-Schmutz I.

Blood Cells Mol Dis. 2011 Jun 15;47(1):72-8. doi: 10.1016/j.bcmd.2011.04.001. Epub 2011 Apr 29.

PMID:
21531153
14.

Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1.

Hacein-Bey-Abina S, Garrigue A, Wang GP, Soulier J, Lim A, Morillon E, Clappier E, Caccavelli L, Delabesse E, Beldjord K, Asnafi V, MacIntyre E, Dal Cortivo L, Radford I, Brousse N, Sigaux F, Moshous D, Hauer J, Borkhardt A, Belohradsky BH, Wintergerst U, Velez MC, Leiva L, Sorensen R, Wulffraat N, Blanche S, Bushman FD, Fischer A, Cavazzana-Calvo M.

J Clin Invest. 2008 Sep;118(9):3132-42. doi: 10.1172/JCI35700.

15.

Stable and functional lymphoid reconstitution in artemis-deficient mice following lentiviral artemis gene transfer into hematopoietic stem cells.

Benjelloun F, Garrigue A, Demerens-de Chappedelaine C, Soulas-Sprauel P, Malassis-Séris M, Stockholm D, Hauer J, Blondeau J, Rivière J, Lim A, Le Lorc'h M, Romana S, Brousse N, Pâques F, Galy A, Charneau P, Fischer A, de Villartay JP, Cavazzana-Calvo M.

Mol Ther. 2008 Aug;16(8):1490-9. doi: 10.1038/mt.2008.118. Epub 2008 Jun 17.

16.

DNA bar coding and pyrosequencing to analyze adverse events in therapeutic gene transfer.

Wang GP, Garrigue A, Ciuffi A, Ronen K, Leipzig J, Berry C, Lagresle-Peyrou C, Benjelloun F, Hacein-Bey-Abina S, Fischer A, Cavazzana-Calvo M, Bushman FD.

Nucleic Acids Res. 2008 May;36(9):e49. doi: 10.1093/nar/gkn125. Epub 2008 Apr 14.

17.

A human postnatal lymphoid progenitor capable of circulating and seeding the thymus.

Six EM, Bonhomme D, Monteiro M, Beldjord K, Jurkowska M, Cordier-Garcia C, Garrigue A, Dal Cortivo L, Rocha B, Fischer A, Cavazzana-Calvo M, André-Schmutz I.

J Exp Med. 2007 Dec 24;204(13):3085-93. Epub 2007 Dec 10.

18.

Vector integration is nonrandom and clustered and influences the fate of lymphopoiesis in SCID-X1 gene therapy.

Deichmann A, Hacein-Bey-Abina S, Schmidt M, Garrigue A, Brugman MH, Hu J, Glimm H, Gyapay G, Prum B, Fraser CC, Fischer N, Schwarzwaelder K, Siegler ML, de Ridder D, Pike-Overzet K, Howe SJ, Thrasher AJ, Wagemaker G, Abel U, Staal FJ, Delabesse E, Villeval JL, Aronow B, Hue C, Prinz C, Wissler M, Klanke C, Weissenbach J, Alexander I, Fischer A, von Kalle C, Cavazzana-Calvo M.

J Clin Invest. 2007 Aug;117(8):2225-32.

19.

Real-time definition of non-randomness in the distribution of genomic events.

Abel U, Deichmann A, Bartholomae C, Schwarzwaelder K, Glimm H, Howe S, Thrasher A, Garrigue A, Hacein-Bey-Abina S, Cavazzana-Calvo M, Fischer A, Jaeger D, von Kalle C, Schmidt M.

PLoS One. 2007 Jun 27;2(6):e570.

20.

Fragile sites are preferential targets for integrations of MLV vectors in gene therapy.

Bester AC, Schwartz M, Schmidt M, Garrigue A, Hacein-Bey-Abina S, Cavazzana-Calvo M, Ben-Porat N, Von Kalle C, Fischer A, Kerem B.

Gene Ther. 2006 Jul;13(13):1057-9. Epub 2006 Mar 2. Erratum in: Gene Ther. 2007 Feb;14(3):282.

PMID:
16511518
21.

[Gene therapy of severe combined immunodeficiency disease: proof of principle of efficiency and safety issues. Gene therapy, primary immunodeficiencies, retrovirus, lentivirus, genome].

Fischer A, Hacein-Bey-Abina S, Lagresle C, Garrigue A, Cavazana-Calvo M.

Bull Acad Natl Med. 2005 May;189(5):779-85; discussion 786-8. French.

PMID:
16433450
22.

Long-term immune reconstitution in RAG-1-deficient mice treated by retroviral gene therapy: a balance between efficiency and toxicity.

Lagresle-Peyrou C, Yates F, Malassis-Séris M, Hue C, Morillon E, Garrigue A, Liu A, Hajdari P, Stockholm D, Danos O, Lemercier B, Gougeon ML, Rieux-Laucat F, de Villartay JP, Fischer A, Cavazzana-Calvo M.

Blood. 2006 Jan 1;107(1):63-72. Epub 2005 Sep 20.

PMID:
16174758
23.

Clonal evidence for the transduction of CD34+ cells with lymphomyeloid differentiation potential and self-renewal capacity in the SCID-X1 gene therapy trial.

Schmidt M, Hacein-Bey-Abina S, Wissler M, Carlier F, Lim A, Prinz C, Glimm H, Andre-Schmutz I, Hue C, Garrigue A, Le Deist F, Lagresle C, Fischer A, Cavazzana-Calvo M, von Kalle C.

Blood. 2005 Apr 1;105(7):2699-706. Epub 2004 Dec 7.

PMID:
15585650

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