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Items: 1 to 50 of 97

1.

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing.

About F, Bibert S, Jouanguy E, Nalpas B, Lorenzo L, Rattina V, Zarhrate M, Hanein S, Munteanu M, Müllhaupt B, Semela D, Semmo N, Casanova JL, Theodorou I, Sultanik P, Poynard T, Pol S, Bochud PY, Cobat A, Abel L; Swiss Hepatitis C Cohort Study Group; French ANRS HC EP 26 Genoscan Study Group.

Front Genet. 2019 Nov 4;10:1024. doi: 10.3389/fgene.2019.01024. eCollection 2019.

2.

Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing.

Rinne SJ, Sipilä LJ, Sulo P, Jouanguy E, Béziat V, Abel L, Casanova JL, Parvaneh N, Balighi K, Guttman-Yassky E, Sarid R, Aaltonen LA, Aavikko M.

Open Forum Infect Dis. 2019 Jul 17;6(10):ofz337. doi: 10.1093/ofid/ofz337. eCollection 2019 Oct.

3.

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Drutman SB, Haerynck F, Zhong FL, Hum D, Hernandez NJ, Belkaya S, Rapaport F, de Jong SJ, Creytens D, Tavernier SJ, Bonte K, De Schepper S, van der Werff Ten Bosch J, Lorenzo-Diaz L, Wullaert A, Bossuyt X, Orth G, Bonagura VR, Béziat V, Abel L, Jouanguy E, Reversade B, Casanova JL.

Proc Natl Acad Sci U S A. 2019 Sep 17;116(38):19055-19063. doi: 10.1073/pnas.1906184116. Epub 2019 Sep 4.

PMID:
31484767
4.

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines.

Hernandez N, Bucciol G, Moens L, Le Pen J, Shahrooei M, Goudouris E, Shirkani A, Changi-Ashtiani M, Rokni-Zadeh H, Sayar EH, Reisli I, Lefevre-Utile A, Zijlmans D, Jurado A, Pholien R, Drutman S, Belkaya S, Cobat A, Boudewijns R, Jochmans D, Neyts J, Seeleuthner Y, Lorenzo-Diaz L, Enemchukwu C, Tietjen I, Hoffmann HH, Momenilandi M, Pöyhönen L, Siqueira MM, de Lima SMB, de Souza Matos DC, Homma A, Maia MLS, da Costa Barros TA, de Oliveira PMN, Mesquita EC, Gijsbers R, Zhang SY, Seligman SJ, Abel L, Hertzog P, Marr N, Martins RM, Meyts I, Zhang Q, MacDonald MR, Rice CM, Casanova JL, Jouanguy E, Bossuyt X.

J Exp Med. 2019 Sep 2;216(9):2057-2070. doi: 10.1084/jem.20182295. Epub 2019 Jul 3.

PMID:
31270247
5.

Inherited IL-18BP deficiency in human fulminant viral hepatitis.

Belkaya S, Michailidis E, Korol CB, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez N, Drutman S, de Jong YP, Vivier E, Bruneau J, Béziat V, Boisson B, Lorenzo-Diaz L, Boucherit S, Sebagh M, Jacquemin E, Emile JF, Abel L, Rice CM, Jouanguy E, Casanova JL.

J Exp Med. 2019 Aug 5;216(8):1777-1790. doi: 10.1084/jem.20190669. Epub 2019 Jun 18.

PMID:
31213488
6.

Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L, Bustamante J, Casanova JL, Jouanguy E, Zhang Q.

J Clin Immunol. 2019 Jul;39(5):527. doi: 10.1007/s10875-019-00653-0.

PMID:
31175480
7.

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Pöyhönen L, Bustamante J, Casanova JL, Jouanguy E, Zhang Q.

J Clin Immunol. 2019 May;39(4):376-390. doi: 10.1007/s10875-019-00642-3. Epub 2019 May 23. Review. Erratum in: J Clin Immunol. 2019 Jun 7;:.

PMID:
31123910
8.

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

Zhang SY, Jouanguy E, Zhang Q, Abel L, Puel A, Casanova JL.

Curr Opin Immunol. 2019 Aug;59:88-100. doi: 10.1016/j.coi.2019.03.008. Epub 2019 May 20. Review.

PMID:
31121434
9.

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.

Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J.

Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942.

PMID:
30778533
10.

Dominant negative CARD11 mutations: Beyond atopy.

Béziat V, Jouanguy E, Puel A.

J Allergy Clin Immunol. 2019 Apr;143(4):1345-1347. doi: 10.1016/j.jaci.2018.12.1006. Epub 2019 Jan 17. No abstract available.

PMID:
30659853
11.

A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.

Vahidnezhad H, Youssefian L, Saeidian AH, Mansoori B, Jazayeri A, Azizpour A, Hesari KK, Yousefi M, Zeinali S, Jouanguy E, Casanova JL, Uitto J.

J Invest Dermatol. 2019 May;139(5):1195-1198. doi: 10.1016/j.jid.2018.11.011. Epub 2018 Nov 29. No abstract available.

PMID:
30503243
12.

The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses.

de Jong SJ, Créquer A, Matos I, Hum D, Gunasekharan V, Lorenzo L, Jabot-Hanin F, Imahorn E, Arias AA, Vahidnezhad H, Youssefian L, Markle JG, Patin E, D'Amico A, Wang CQF, Full F, Ensser A, Leisner TM, Parise LV, Bouaziz M, Maya NP, Cadena XR, Saka B, Saeidian AH, Aghazadeh N, Zeinali S, Itin P, Krueger JG, Laimins L, Abel L, Fuchs E, Uitto J, Franco JL, Burger B, Orth G, Jouanguy E, Casanova JL.

J Exp Med. 2018 Sep 3;215(9):2289-2310. doi: 10.1084/jem.20170308. Epub 2018 Aug 1.

13.

Epidermodysplasia Verruciformis: Genetic Heterogeneity and EVER1 and EVER2 Mutations Revealed by Genome-Wide Analysis.

Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab Hesari K, Zeinali S, de Jong SJ, Orth G, Blanchet-Bardon C, Jouanguy E, Casanova JL, Uitto J.

J Invest Dermatol. 2019 Jan;139(1):241-244. doi: 10.1016/j.jid.2018.07.010. Epub 2018 Jul 20. No abstract available.

PMID:
30036492
14.

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses.

de Jong SJ, Imahorn E, Itin P, Uitto J, Orth G, Jouanguy E, Casanova JL, Burger B.

Front Microbiol. 2018 Jun 12;9:1222. doi: 10.3389/fmicb.2018.01222. eCollection 2018.

15.

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

Regateiro FS, Belkaya S, Neves N, Ferreira S, Silvestre P, Lemos S, Venâncio M, Casanova JL, Gonçalves I, Jouanguy E, Diogo L.

Eur J Med Genet. 2017 Aug;60(8):426-432. doi: 10.1016/j.ejmg.2017.05.005. Epub 2017 May 30.

PMID:
28576691
16.

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Cottineau J, Kottemann MC, Lach FP, Kang YH, Vély F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E.

J Clin Invest. 2017 May 1;127(5):1991-2006. doi: 10.1172/JCI90727. Epub 2017 Apr 17.

17.

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL.

J Exp Med. 2016 Oct 17;213(11):2413-2435. Epub 2016 Sep 19.

18.

Kaposi Sarcoma of Childhood: Inborn or Acquired Immunodeficiency to Oncogenic HHV-8.

Jackson CC, Dickson MA, Sadjadi M, Gessain A, Abel L, Jouanguy E, Casanova JL.

Pediatr Blood Cancer. 2016 Mar;63(3):392-7. doi: 10.1002/pbc.25779. Epub 2015 Oct 15. Review.

19.

A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.

Hanna S, Béziat V, Jouanguy E, Casanova JL, Etzioni A.

J Allergy Clin Immunol. 2015 Oct;136(4):1113-4. doi: 10.1016/j.jaci.2015.04.021. Epub 2015 May 27. No abstract available.

PMID:
26025130
20.

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk.

Lim HK, Seppänen M, Hautala T, Ciancanelli MJ, Itan Y, Lafaille FG, Dell W, Lorenzo L, Byun M, Pauwels E, Rönnelid Y, Cai X, Boucherit S, Jouanguy E, Paetau A, Lebon P, Rozenberg F, Tardieu M, Abel L, Yildiran A, Vergison A, Roivainen R, Etzioni A, Tienari PJ, Casanova JL, Zhang SY.

Neurology. 2014 Nov 18;83(21):1888-97. doi: 10.1212/WNL.0000000000000999. Epub 2014 Oct 22.

21.

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S.

Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12.

22.

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.

Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM.

J Clin Immunol. 2014 Oct;34(7):871-90. doi: 10.1007/s10875-014-0074-8. Epub 2014 Jul 30.

23.

Inborn errors of the development of human natural killer cells.

Jouanguy E, Gineau L, Cottineau J, Béziat V, Vivier E, Casanova JL.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):589-95. doi: 10.1097/ACI.0000000000000011. Review.

24.

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood.

Byun M, Ma CS, Akçay A, Pedergnana V, Palendira U, Myoung J, Avery DT, Liu Y, Abhyankar A, Lorenzo L, Schmidt M, Lim HK, Cassar O, Migaud M, Rozenberg F, Canpolat N, Aydogan G, Fleckenstein B, Bustamante J, Picard C, Gessain A, Jouanguy E, Cesarman E, Olivier M, Gros P, Abel L, Croft M, Tangye SG, Casanova JL.

J Exp Med. 2013 Aug 26;210(9):1743-59. doi: 10.1084/jem.20130592. Epub 2013 Jul 29.

25.

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells.

Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD.

Nature. 2012 Nov 29;491(7426):769-73. doi: 10.1038/nature11583. Epub 2012 Oct 28.

26.

Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.

Crequer A, Picard C, Patin E, D'Amico A, Abhyankar A, Munzer M, Debré M, Zhang SY, de Saint-Basile G, Fischer A, Abel L, Orth G, Casanova JL, Jouanguy E.

PLoS One. 2012;7(8):e44010. doi: 10.1371/journal.pone.0044010. Epub 2012 Aug 27.

27.

EVER2 deficiency is associated with mild T-cell abnormalities.

Crequer A, Picard C, Pedergnana V, Lim A, Zhang SY, Abel L, Majewski S, Casanova JL, Jablonska S, Orth G, Jouanguy E.

J Clin Immunol. 2013 Jan;33(1):14-21. doi: 10.1007/s10875-012-9749-1. Epub 2012 Aug 19.

28.

Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.

Crequer A, Troeger A, Patin E, Ma CS, Picard C, Pedergnana V, Fieschi C, Lim A, Abhyankar A, Gineau L, Mueller-Fleckenstein I, Schmidt M, Taieb A, Krueger J, Abel L, Tangye SG, Orth G, Williams DA, Casanova JL, Jouanguy E.

J Clin Invest. 2012 Sep;122(9):3239-47. doi: 10.1172/JCI62949. Epub 2012 Aug 1.

29.

Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.

Patin E, Kutalik Z, Guergnon J, Bibert S, Nalpas B, Jouanguy E, Munteanu M, Bousquet L, Argiro L, Halfon P, Boland A, Müllhaupt B, Semela D, Dufour JF, Heim MH, Moradpour D, Cerny A, Malinverni R, Hirsch H, Martinetti G, Suppiah V, Stewart G, Booth DR, George J, Casanova JL, Bréchot C, Rice CM, Talal AH, Jacobson IM, Bourlière M, Theodorou I, Poynard T, Negro F, Pol S, Bochud PY, Abel L; Swiss Hepatitis C Cohort Study Group, International Hepatitis C Genetics Consortium; French ANRS HC EP 26 Genoscan Study Group.

Gastroenterology. 2012 Nov;143(5):1244-1252.e12. doi: 10.1053/j.gastro.2012.07.097. Epub 2012 Jul 27.

30.

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.

Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcaïs A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E.

J Clin Invest. 2012 Mar;122(3):821-32. doi: 10.1172/JCI61014. Epub 2012 Feb 22.

31.

Inborn errors of anti-viral interferon immunity in humans.

Sancho-Shimizu V, Perez de Diego R, Jouanguy E, Zhang SY, Casanova JL.

Curr Opin Virol. 2011 Dec;1(6):487-96. doi: 10.1016/j.coviro.2011.10.016. Review.

32.

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency.

Sancho-Shimizu V, Pérez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL.

J Clin Invest. 2011 Dec;121(12):4889-902. doi: 10.1172/JCI59259. Epub 2011 Nov 21.

33.

DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.

Randall KL, Chan SS, Ma CS, Fung I, Mei Y, Yabas M, Tan A, Arkwright PD, Al Suwairi W, Lugo Reyes SO, Yamazaki-Nakashimada MA, Garcia-Cruz Mde L, Smart JM, Picard C, Okada S, Jouanguy E, Casanova JL, Lambe T, Cornall RJ, Russell S, Oliaro J, Tangye SG, Bertram EM, Goodnow CC.

J Exp Med. 2011 Oct 24;208(11):2305-20. doi: 10.1084/jem.20110345. Epub 2011 Oct 17.

34.

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity.

Guo Y, Audry M, Ciancanelli M, Alsina L, Azevedo J, Herman M, Anguiano E, Sancho-Shimizu V, Lorenzo L, Pauwels E, Philippe PB, Pérez de Diego R, Cardon A, Vogt G, Picard C, Andrianirina ZZ, Rozenberg F, Lebon P, Plancoulaine S, Tardieu M, Valérie Doireau, Jouanguy E, Chaussabel D, Geissmann F, Abel L, Casanova JL, Zhang SY.

J Exp Med. 2011 Sep 26;208(10):2083-98. doi: 10.1084/jem.20101568. Epub 2011 Sep 12.

35.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, Masson C, Toth B, Flatot J, Migaud M, Chrabieh M, Kochetkov T, Bolze A, Borghesi A, Toulon A, Hiller J, Eyerich S, Eyerich K, Gulácsy V, Chernyshova L, Chernyshov V, Bondarenko A, Grimaldo RM, Blancas-Galicia L, Beas IM, Roesler J, Magdorf K, Engelhard D, Thumerelle C, Burgel PR, Hoernes M, Drexel B, Seger R, Kusuma T, Jansson AF, Sawalle-Belohradsky J, Belohradsky B, Jouanguy E, Bustamante J, Bué M, Karin N, Wildbaum G, Bodemer C, Lortholary O, Fischer A, Blanche S, Al-Muhsen S, Reichenbach J, Kobayashi M, Rosales FE, Lozano CT, Kilic SS, Oleastro M, Etzioni A, Traidl-Hoffmann C, Renner ED, Abel L, Picard C, Maródi L, Boisson-Dupuis S, Puel A, Casanova JL.

J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.

36.

NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Audry M, Ciancanelli M, Yang K, Cobat A, Chang HH, Sancho-Shimizu V, Lorenzo L, Niehues T, Reichenbach J, Li XX, Israel A, Abel L, Casanova JL, Zhang SY, Jouanguy E, Puel A.

J Allergy Clin Immunol. 2011 Sep;128(3):610-7.e1-4. doi: 10.1016/j.jaci.2011.04.059. Epub 2011 Jul 1.

37.

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma.

Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, Boisson B, Picard C, Dewell S, Zhao C, Jouanguy E, Feske S, Abel L, Casanova JL.

J Exp Med. 2010 Oct 25;207(11):2307-12. doi: 10.1084/jem.20101597. Epub 2010 Sep 27.

38.

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.

Pérez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL.

Immunity. 2010 Sep 24;33(3):400-11. doi: 10.1016/j.immuni.2010.08.014. Epub 2010 Sep 9.

39.

Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.

Nalpas B, Lavialle-Meziani R, Plancoulaine S, Jouanguy E, Nalpas A, Munteanu M, Charlotte F, Ranque B, Patin E, Heath S, Fontaine H, Vallet-Pichard A, Pontoire D, Bourlière M, Casanova JL, Lathrop M, Bréchot C, Poynard T, Matsuda F, Pol S, Abel L.

Gut. 2010 Aug;59(8):1120-6. doi: 10.1136/gut.2009.202267. Epub 2010 Jun 29.

PMID:
20587546
40.

Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood.

Abel L, Plancoulaine S, Jouanguy E, Zhang SY, Mahfoufi N, Nicolas N, Sancho-Shimizu V, Alcaïs A, Guo Y, Cardon A, Boucherit S, Obach D, Clozel T, Lorenzo L, Amsallem D, Berquin P, Blanc T, Bost-Bru C, Chabrier S, Chabrol B, Cheuret E, Dulac O, Evrard P, Héron B, Lazaro L, Mancini J, Pedespan JM, Rivier F, Vallée L, Lebon P, Rozenberg F, Casanova JL, Tardieu M.

J Pediatr. 2010 Oct;157(4):623-9, 629.e1. doi: 10.1016/j.jpeds.2010.04.020. Epub 2010 May 31.

PMID:
20553844
41.

Primary immunodeficiencies of protective immunity to primary infections.

Bousfiha A, Picard C, Boisson-Dupuis S, Zhang SY, Bustamante J, Puel A, Jouanguy E, Ailal F, El-Baghdadi J, Abel L, Casanova JL.

Clin Immunol. 2010 May;135(2):204-9. doi: 10.1016/j.clim.2010.02.001. Epub 2010 Mar 16. Review.

PMID:
20236864
42.

Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds.

Sahin G, Palanduz A, Aydogan G, Cassar O, Ertem AU, Telhan L, Canpolat N, Jouanguy E, Picard C, Gessain A, Abel L, Casanova JL, Plancoulaine S.

Pediatrics. 2010 Mar;125(3):e704-8. doi: 10.1542/peds.2009-2224. Epub 2010 Feb 15.

43.

WITHDRAWN: Genetic infectious susceptibility and TLR defects in human.

Picard C, Puel A, Zhang SY, Jouanguy E, Sancho V, Abel L, Casanova JL.

Immunol Lett. 2009 Oct 4. [Epub ahead of print]

PMID:
19808052
44.

A partial form of recessive STAT1 deficiency in humans.

Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, Abel L, Engelhard D, Casanova JL.

J Clin Invest. 2009 Jun;119(6):1502-14. doi: 10.1172/JCI37083. Epub 2009 May 11.

45.

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.

Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL.

Immunol Rev. 2008 Dec;226:29-40. doi: 10.1111/j.1600-065X.2008.00698.x. Review.

PMID:
19161414
46.

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans.

Isnardi I, Ng YS, Srdanovic I, Motaghedi R, Rudchenko S, von Bernuth H, Zhang SY, Puel A, Jouanguy E, Picard C, Garty BZ, Camcioglu Y, Doffinger R, Kumararatne D, Davies G, Gallin JI, Haraguchi S, Day NK, Casanova JL, Meffre E.

Immunity. 2008 Nov 14;29(5):746-57. doi: 10.1016/j.immuni.2008.09.015.

47.

A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo.

Guia S, Cognet C, de Beaucoudrey L, Tessmer MS, Jouanguy E, Berger C, Filipe-Santos O, Feinberg J, Camcioglu Y, Levy J, Al Jumaah S, Al-Hajjar S, Stephan JL, Fieschi C, Abel L, Brossay L, Casanova JL, Vivier E.

Blood. 2008 May 15;111(10):5008-16. doi: 10.1182/blood-2007-11-122259. Epub 2008 Mar 4.

PMID:
18319400
48.

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