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Top Original Peer-Reviewed Publications

  1. Anzilotti C, Swan DJ, Boisson B, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berlinguer-Palmini R, Bull KR, Cawthorne E, Cribbs AP, Crockford TL, Dang TS, Fearn A, Fenech EJ, de JongSJ, Lagerholm C, Ma CS, Sims D, Van Den Burg B, Xu Y, Cant AJ, Kleiner G, Leahy TR, de la Morena MT, Puck JM, Shapiro RS, van der Burg M, Chapman JR, Christianson JC, Davies B, McGrath JA, Przyborski S, Santibanez Koref M, Tangye SG, Werner A, Rutter GA, Padilla-Parra S, Casanova JL, Cornall RJ*,@, Conley ME*,@, Hambleton S*,@. An essential role for the Zn2+ transporter ZIP7 in B cell development. Nature Immunology. 2019 Feb 4. doi: 10.1038/s41590-018-0295-8.
  2. Maffucci P, Bigio B, Rapaport F, Cobat A, Borghesi A, Lopez M, Patin E, Bolze A, Shang L, Bendavid M, Scott E, Stenson P, Cunningham-Rundles C, Cooper D, Gleeson J, Fellay J, Quintana-Murci L, Casanova JL@, Abel L, Boisson B*, Itan Y*,@. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis. Proceedings of the National Academy of Sciences USA. 2019 Jan 15;116(3):950-959.
  3. Boisson B†,@, Honda Y, Ajiro M, Bustamante JBendavid M,  Gennery AR, Kawasaki Y, Ichishima J, Osawa M, Nihira H, Shiba T, Tanaka T, Chrabieh MBigio B, Hur H, Itan Y, Liang Y, Okada S, Izawa K, Nishikomori R, Ohara O, Heike T, Abel L, Puel A, Saito MK*, Casanova JL*,@, Hagiwara M*, Yasumi T*,@. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency. Journal of Clinical Investigation. 2019 Feb 1;129(2):583-597.
  4. Boisson-Dupuis S†,@, Ramirez-Alejo N, Zhi L, Patin E, Geetha R, Gaspard K, Lim CK, Kremenestov D, Hernandez N, Ma C, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson C, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amarani HN, Zegmout A, Geissman F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarstrom L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L*, Casanova JL*,@. Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant. Science Immunology. 2018 Dec 21; 3(30):eaau8714. doi: 10.1126/sciimmunol.aau8714.
  5. Martinez-Barricarte R, Markle JG†,@, Ma CS, Deenick EK, Ramirez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Ayetkin C, Mansouri D, Bryant V, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissman F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL@. Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23. Science Immunology. 2018 Dec 21; 3(30):eaau6759. doi: 10.1126/sciimmunol.aau6759.
  6. Hernandez N, Melki I, Jing H, Habib T, Huang SSY, Kula T, Drutman S, Belkaya S, Rattina V, Lorenzo-Diaz L, Boulai A, Rose Y, Kitabayashi N, Rodero MP, Dumaine C, Blanche S, Lebras MN, Leung MC, Mathew LS, Boisson B, Zhang SY, Boisson-Dupuis S, Gilani S, Chaussabel D, Notarangelo LD, Elledge S, Ciancanelli MJ, Abel L, Zhang Q, Marr N, Crow YJ, Su HC, Casanova JL@. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. Journal of Experimental Medicine. 2018 Oct 1; 215(10):2567-2585.
  7. Zimmer B, Ewaleifoh O, Harschnitz O, Lee YS, Peneau C, McAlpine JL, Liu B, Tchieu J, Steinbeck JA, Lafaille F, Volpi S, Notarangelo LD, Casanova JL@, Zhang SY*, Smith GA*,@, Studer S*,@. Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection. Proceedings of the National Academy of Sciences USA. 2018 Sep 11; 115(37):E8775-E8782.
  8. 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*,@. The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses. Journal of Experimental Medicine. 2018 Sep 3; 215(9):2289-2310.
  9. Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J*, Casanova JL*,@Disruption of an antimycobacterial circuit between dendritic and T helper cells in humans with inherited SPPL2a deficiency. Nature Immunology. 2018 Sep; 19(9):973-985.
  10. van de Geer A, Nieto-Patlán A, Kuhns DB, Tool AT, Arias AA, Bouaziz M, de Boer M, Franco JL, Gazendam RP, van Hamme JL, van Houdt M, van Leeuwen K, Verkuijlen PJ, van den Berg TK, Alzate JF, Arango-Franco CA, Batura V, Bernasconi AR, Boardman B, Booth C, Burns SO, Cabarcas F, Bensussan NC, Charbit-Henrion F, Corveleyn A, Deswarte C, Azcoiti ME, Foell D, Gallin JI, Garcés C, Guedes M, Hinze CH, Holland SM, Hughes SM, Ibañez P, Malech HL, Meyts I, Moncada-Velez M, Moriya K, Neves E, Oleastro M, Perez L, Rattina V, Oleaga-Quintas C, Warner N, Muise AM, López JS, Trindade E, Vasconcelos J, Vermeire S, Wittkowski H, Worth A, Abel L, Dinauer MC, Arkwright PD, Roos D*,@, Casanova JL*,@, Kuijpers TW*,@, Bustamante J*,@. Inherited p40phox deficiency differs from classic chronic granulomatous disease. Journal of Clinical Investigation. 2018 Aug 31; 128(9):3957-3975.
  11. Bolze A, Boisson B@, Bosch B, Antipenko A, Bouaziz M, Sackstein P, Chaker-Margot M, Barlogis V, Briggs T, Colino E, Elmore AC, Fischer A, Genel F, Hewlett A, Jedidi M, Kelecic J, Krüger R, Ku CL, Kumararatne D, Lefevre-Utile A, Loughlin S, Mahlaoui N, Markus S, Garcia JM, Nizon M, Oleastro M, Pac M, Picard C, Pollard AJ, Rodriguez-Gallego C, Thomas C, Von Bernuth H, Worth A, Meyts I, Risolino M, Selleri L, Puel A, Klinge S, Abel L, Casanova JL@. Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA Proceedings of the National Academy of Sciences USA. 2018 Aug 21; 115(34):E8007-E8016.
  12. Béziat B@, Li J, Lin JX, Ma CS, Li P, Bousfiha A, Pellier I, Zoghi S, Baris S, Keles S, Gray P, Du N, Wang Y, Zerbib Y, Lévy R, Leclercq T, About F, Lim AI, Rao G, Payne K, Pelham SJ, Avery DT, Deenick EK, Pillay B, Chou J, Guery R, Belkadi A, Guérin A, Migaud M, Rattina V, Ailal F, Benhsaien I, Bouaziz M, Habib T, Chaussabel D, Marr N, El-Benna J, Grimbacher B, Wargon O, Bustamante J, Boisson B, Müller-Fleckenstein I, Fleckenstein B, Chandesris MO, Titeux M, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Meyts I, Di Santo JP, Hovnanian A, Somer A, Ozen A, Rezaei N, Chatila TA, Abel L, Leonard WJ, Tangye SG, Puel A*,@Casanova JL*,@A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Science Immunology. 2018 Jun 15; 3(24). pii: eaat4956.
  13. Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Beziat V, Della Mina E, Oleaga-Quintas C, Lazarovt T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D*, Abel L*, Bustamante J*, Casanova JL*,@. IRF4 haploinsufficiency in a family with Whipple's disease. 2018 Mar 14; 7. pii::e32340. doi: 10.7554/eLife.32340.
  14. Zhang SY@, Clark NE, Freije CA, Pauwels E, Taggart AJ, Okada S, Mandel H, Garcia P, Ciancanelli MJ, Biran A, Lafaille FG, Tsumura M, Cobat A, Luo J, Volpi S, Zimmer B, Sakata S, Dinis A, Ohara O, Garcia Reino EJ, Dobbs K, Hasek M, Holloway SP, McCammon K, Hussong SA, DeRosa N, Van Skike CE, Katolik A, Lorenzo L, Hyodo M, Faria E, Halwani R, Fukuhara R, Smith GA, Galvan V, Damha MJ, Al-Muhsen S, Itan Y, Boeke JD, Notarangelo LD, Studer L, Kobayashi M, Diogo L, Fairbrother WG, Abel L, Rosenberg BR, Hart PJ, Etzioni A, Casanova JL. Inborn errors of RNA lariat metabolism in humans with brainstem viral infection. Cell. 2018 Feb 22; 172(5):952-965.e18.
  15. Ogunjimi B, Zhang SY, Sørensen KB, Skipper KA, Carter-Timofte M, Kerner G, Luecke S, Prabakaran T, Cai Y, Meester J, Bartholomeus E, Bolar NA, Vandeweyer G, Claes C, Sillis Y, Lorenzo L, Fiorenza RA, Boucherit S, Dielman C, Heynderickx S, Elias G, Kurotova A, Auwera AV, Verstraete L, Lagae L, Verhelst H, Jansen A, Ramet J, Suls A, Smits E, Ceulemans B, Van Laer L, Plat Wilson G, Kreth J, Picard C, Von Bernuth H, Fluss J, Chabrier S, Abel L, Mortier G, Fribourg S, Mikkelsen JG, Casanova JL, Paludan SR*,@, Mogensen TH*. Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections. Journal of Clinical Investigation. 2017 Sep 1; 127(9):3543-3556.
  16. 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*. Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. Journal of Clinical Investigation. 2017 May 1; 127(5):1991-2006.
  17. Israel L, Wang Y, Bulek K, Della Mina E, Zhang Z, Pedergnana V, Chrabieh M, Lemmens NA, Sancho-Shimizu V, Descatoire M, Lasseau T, Israelsson E, Lorenzo L, Yun L, Belkadi A, Moran A, Weisman LE, Vandenesch F, Batteux F, Weller S, Levin M, Herberg J, Abhyankar A, Prando C, Itan Y, van Wamel WJ, Picard C, Abel L, Chaussabel D, Li X, Beutler B, Arkwright PD, Casanova JL*,@, Puel A*,@. Human adaptive immunity rescues an inborn error of innate immunity. 2017 Feb 23; 168(5):789-800.e10.
  18. Della Mina E, Borghesi A, Zhou H, Bougarn S, Boughorbel S, Israel L, Meloni I, Chrabieh M, Ling Y, Itan Y, Renieri A, Mazzucchelli I, Basso S, Pavone P, Falsaperla R, Ciccone R, Cerbo R, Stronati M, Picard C, Zuffardi O, Abel L, Chaussabel D, Marr N, Li X, Casanova JL*,@, Puel A*,@. Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts. Proceedings of the National Academy of Sciences USA. 2017 Jan 24; 114(4):E514-E523.
  19. Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camcioglu Y, Celmeli F, Klein C, AlKhater SA, Casanova JL*,@, Puel A*,@. Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. Proceedings of the National Academy of Sciences USA. 2016 Dec 20; 113(51):E8277-E8285.
  20. 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*. Dual T cell- and B cell-intrinsic deficiency in humans with bi-allelic RLTPR mutations. Journal of Experimental Medicine. 2016 Oct 17; 213(11):2413-2435.
  21. Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent Q, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A, Exome/Array Consortium, Alcaïs A, Boisson B, Casanova JL@, Abel L@. Whole exome sequencing to analyze population structure, parental inbreeding, and familial linkage. Proceedings of the National Academy of Sciences USA. 2016 Jun 14; 113(24):6713-8.
  22. Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME*,@, Rosenzweig SD*. Loss of B cells in patients with heterozygous mutations in IKAROS. New England Journal of Medicine. 2016 Mar 17; 374(11):1032-43.
  23. Itan Y@, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Steenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Zhang SY*, Abel L*, Casanova JL*. The mutation significance cutoff: Gene-level thresholds for variant predictions. Nature Methods. 2016 Feb; 13(2):109-10.
  24. Itan Y@, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY*, Abel L*, Casanova JL*,@. The human gene damage index as a gene-level approach to prioritizing exome variants. Proceedings of the National Academy of Sciences USA. 2015 Nov 3; 112(44):13615-20.
  25. Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A Al-Muhsen S, Abel L, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL*, Boisson-Dupuis S*,@. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. Journal of Experimental Medicine. 2015 Sep 21; 212(10):1641-62.
  26. Okada S, Markle JG,@, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CS, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL@. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. 2015 Aug 7; 349(6248):606-13.
  27. Dobbs K, Domínguez Conde C, Zhang SY,@, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Çiftçi E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskoloğlu Ş, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH*, İkincioğulları A*, Al-Herz W*, Helminen M*, Doğu F*, Casanova JL*,@, Boztuğ K*,@, Notarangelo LD*,@. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. New England Journal of Medicine. 2015 Jun 18; 372(25):2409-22.
  28. Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H, Tsitsikov E, Pai SY, Abel L, Al-Hertz W*, Casanova JL*,@, Israel A*, Notarangelo L*,@. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. Journal of Experimental Medicine. 2015 Jun 1; 212(6):939-51.
  29. Ling Y, Cypowyj C, Aytekin C, Galicchio M, Camcioglu Y, Nepesov S, Ikinciogullari A, Dogu F, Belkadi A, Levy R, Migaud M, Boisson B, Bolze A, Itan Y, Goudin N, Cottineau J, Picard C, Casanova JL*, Puel A*,@. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. Journal of Experimental Medicine. 2015 May 4; 212(5):619-31.
  30. Belkadi A, Bolze A, Itan Y, Cobat A, Vincent QB, Antipenko A, Shang L, Boisson B, Casanova JL*,@, Abel L*,@. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants. Proceedings of the National Academy of Sciences USA. 2015 Apr 28; 112(17):5473-8.
  31. Ciancanelli MJ, Huang SXL, Luthra P, Garner H, Itan Y, Volpi, S, Lafaille FG, Trouillet C, Schmolke M, Albrecht RA, Israelsson E, Lim HK, Casadio M, Hermesh T, Lorenzo L, Leung LW, Pedergnana V, Boisson B, Okada S, Picard C, Ringuier B, Troussier F, Chaussabel D, Abel L, Pellier I, Notarangelo LD, Garcia-Sastre A, Basler CF, Geissmann F, Zhang SY, Snoeck, HW, Casanova JL@. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science. 2015 Apr 24; 348(6233):448-53.
  32. Zhang X, Bogunovic D†,@, Payelle-Brogard B, Francois-Newton V, Speer S, Yuan C, Volpi S, 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 J, Wang QK, Yalnizoglu D, Li Z, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, Garcia-Sastre A, Abel L, Lebon P, Notarangelo LD, Boisson-Dupuis S, Crow YJ, Casanova JL*, Pellegrini S*. Intracellular human ISG15 is an IFN-α/β-inducible negative regulator of IFN-α/β amplification and prevents IFN-α/β-mediated auto-inflammation. 2015 Jan 1; 517(7532):89-93.
  33. Torres JM, Martinez-Barricarte R, García-Gómez S, Mazariegos MS, Itan Y, Boisson B, Álvarez R, Jiménez-Reinoso A, del Pino L, Rodríguez-Pena R, Ferreira A, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Díaz-Almirón M, López-Collazo E, Unzueta-Roch JL, Sánchez-Ramón S, Regueiro JR, López-Granados E, Casanova JL, Pérez de Diego R@. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. Journal of Clinical Investigation. 2014 Dec; 124(12):5239-48.
  34. Boisson B, Wang YD, Bosompem A, Ma, CS, Lim A, Kochetkov T, Tangye SG, Casanova JL, Conley ME@. A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. Journal of Clinical Investigation. 2013 Nov;123(11):4781-5.
  35. Lanternier F, Pathan S, Vincent Q, Liu L, Cypowyj S, Prando C, Migaud M, Taibi L, Ammar-Khodja A, Stambouli OB, Guellil B, Jacobs F, Goffard JC, Schepers K, Del Marmol V, Boussofara L, Denguezli M, Larif M, Bachelez H, Michel L, Lefranc G, Hay R, Jouvion G, Chretien F, Fraitag S, Bougnoux ME, Boudia M, Lortholary O, Abel L, Casanova JL*,@, Picard C*, Grimbacher B*, Puel A@,*. Deep dermatophytic disease and inherited CARD9 deficiency. New England Journal of Medicine. 2013 Oct 31;369(18):1704-1714.
  36. Boisson B@, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, Puel A*, Li X*, Casanova JL*,@. An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis. 2013 Oct 17;39(4):676-86.
  37. 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, Aydoğan 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@. Inherited human OX40 deficiency underlying classical Kaposi sarcoma of childhood. Journal of Experimental Medicine. 2013 Aug 26; 210(9):1743-59.
  38. Bolze A@, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN*, Williams AP*, Baretto R*, Duddridge M*, Kini U*, Pollard AJ*, Gaud C*, Frange P*, Orbach D*, Emile JF*, Stephan JL*, Sorensen R*, Plebani A*, Hammarstrom L*, Conley ME, Selleri L, Casanova JL. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia. 2013 May 24; 340(6135):976-8.
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  86. Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL@. Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection. New England Journal of Medicine. 1996 Dec 26;335(26):1956-61.
  87. Casanova JL@, Jouanguy E, Lamhamedi S, Blanche S, Fischer A. Immunological conditions of children with disseminated BCG infection. 1995 Aug 26;346(8974):581.
  88. MacDonald HR†,@, Casanova JL, Maryanski JL, Cerottini JC. Oligoclonal expansion of MHC class I restricted CTL during a primary response in vivo: Direct monitoring by flow cytometry and polymerase chain reaction. Journal of Experimental Medicine. 1993 May 1;177(5):1487-92.
  89. Casanova JL@, Martinon F, Gournier H, Barra C, Regnault A, Pannetier C, Kourilsky P, Cerottini JC, Maryanski JL. T cell receptor selection by and recognition of two class I major histocompatibility complex-restricted antigenic peptides that differ at a single position. Journal of Experimental Medicine. 1993 Mar 1;177(3):811-20.
  90. Casanova JL@, Cerottini JC, Matthes M, Necker A, Gournier H, Barra C, Widmann C, MacDonald HR, Lemonnier F, Malissen B, Maryanski JL. H-2 restricted cytolytic T lymphocytes specific for HLA display T cell receptors of limited diversity. Journal of Experimental Medicine 1992 Aug 1;176(2):439-47.
  91. Casanova JL@, Romero P, Widmann C, Kourilsky P, Maryanski JL. T cell receptor genes in a series of class I MHC restricted CTL clones specific for a single Plasmodium berghei Implications for T cell allelic exclusion and antigen-specific repertoire. Journal of Experimental Medicine. 1991 Dec 1;174(6):1371-83.

 

†,* Equal contribution; @ Corresponding author; Underlined authors affiliated with lab.

Reviews, editorials, and chapters

  1. Puel A@, Casanova JL. Arid5a makes the IL-17A/F-responsive pathway less arid. Science Signaling. 2018 Oct 9; 11(551).
  2. Crow YJ@, Lebon P, Casanova JL, Gresser I. A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo. Journal of Clinical Immunology. 2018 Aug; 38(6):694-698.
  3. Corvilain E, Casanova JL, Puel A@. Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults. Journal of Clinical Immunology. 2018 Aug;38(6):656-693.
  4. Zhang Q@, Boisson B, Béziat V, Puel A, Casanova JL. Human hyper-IgE syndrome: singular or plural? Mammalian Genome. 2018 Aug; 29(7-8):603-617.
  5. Casanova JL@. Adaptive immunity by convergent evolution. Nature Reviews Immunology. 2018 Apr 25; 18(5):294.
  6. Casanova JL@, Abel L@. Human genetics of infectious diseases: Unique insights into immunological redundancy. Seminars in Immunology. 2018 Apr; 36:1-12.
  7. Li J, Vinh DC, Casanova JL, Puel A@. Inborn errors of immunity underlying fungal diseases in otherwise healthy individuals. Current Opinion in Microbiology. 2017 Dec; 40:46-57.
  8. Zhang Q@, Frange P, Blanche S, Casanova JL. Pathogenesis of infections in HIV-infected individuals: Insights from primary immunodeficiencies. Current Opinion in Immunology. 2017 Oct; 48:122-133.
  9. Boisson B, Puel A, Picard C, Casanova JL. Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. Journal of Clinical Immunology. 2017 Jul;37(5):397-412.
  10. Meyts I@, Casanova JL. A human inborn error connects the α's. Nature Immunology. 2016 May; 17(5):472-4.
  11. Casanova JL@, Nathan CF@, Nussenzweig MC@; Editors. Human studies at JEM: Immunology and beyond. Journal of Experimental Medicine. 2016 Apr 4; 213(4):467-8.
  12. Ciancanelli MJ@, Abel L, Zhang SY, Casanova JL. Host genetics of severe influenza: From mouse Mx1 to human IRF7. Current Opinion in Immunology. 2016 Feb; 38:109-20.
  13. Casanova JL@. Severe infectious diseases of childhood as monogenic inborn errors of immunity. Proceedings of the National Academy of Sciences USA. 2015 Dec 22; 112(51):E7128-37.
  14. Casanova JL@. Human genetic basis of interindividual variability in the course of infection. Proceedings of the National Academy of Sciences USA. 2015 Dec 22; 112(51):E7118-27.
  15. Itan Y@, Casanova JL@. Can the impact of human genetic variations be predicted? Proceedings of the National Academy of Sciences USA. 2015 Sep 15; 112(37):11426-7.
  16. Zhang SY@, Casanova JL. Inborn errors underlying herpes simplex encephalitis: From TLR3 to IRF3. Journal of Experimental Medicine. 2015 Aug 24; 212(9):1342-3.
  17. Teng MW, Bowman EP, McElwee JJ, Smyth MJ, Casanova JL, Cooper AM, Cua DJ@. IL-12 and IL-23 cytokines: From discovery to targeted therapies for immune-mediated inflammatory diseases. Nature Medicine. 2015 Jul; 21(7):719-29.
  18. Anderson MS@, Casanova JL@. More than meets the eye: Monogenic autoimmunity strikes again. 2015 Jun 16; 42(6):986-8.
  19. Boisson-Dupuis S@, Bustamante J, El-Bagdadi J, Camcioglu Y, Parvaneh N, El Azbaoui S, Agader A, Hassani A, El Hafidi N, Alaoui Mrani N, Jouhadi Z, Ailal F, Najib J, Reisli I, Zamani A, Yosunkaya S, Gulle-Girit S, Yildiran A, Erol Cipe F, Hancerli Torun S, Metin A, Atikan BY, Hatipoglu N, Aydogmus C, Kilic SS, Dogu F, Aksu G, Kutukculer N, Keser-Emiroglu M, Somer A, Tanir G, Aytekin C, Adimi P, Alireza Mahdaviani S, Mamishi S, Bousfiha A, Sanal O, Mansouri D, Casanova JL*, Abel L*. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood. Immunological Reviews. 2015 Mar; 264(1):103-20.
  20. Boisson B@, Quartier P, Casanova JL. Immunological loss-of-function due to genetic gain-of-function in humans: Autosomal dominance of the third kind. Current Opinion in Immunology. 2015 Feb; 32:90-105.
  21. Casanova JL@, Abel L. Disentangling inborn and acquired immunity in human twins. Cell. 2015 Jan 15; 160(1-2):13-5.
  22. Bustamante J@, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Seminars in Immunology. 2014 Dec; 26(6):454-470.
  23. Casanova JL@, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: Lessons from primary immunodeficiencies. Journal of Experimental Medicine. 2014 Oct 20; 211(11):2137-49.
  24. Conley ME@, Casanova JL. Discovery of single-gene inborn errors of immunity by next generation sequencing. Current Opinion in Immunology. 2014 Oct; 30C:17-23.
  25. Rieux-Laucat F, Casanova JL@. Autoimmunity by haploinsufficiency. 2014 Sep 26; 345(6204):1560-1.
  26. Crow YJ@, Casanova JL. STING-associated vasculopathy with onset in infancy--a new interferonopathy. New England Journal of Medicine. 2014 Aug 7; 371(6):568-71.
  27. Boisson B@, Casanova JL. LUBAC: A new function in immunity. Journal of Experimental Medicine. 2014 Jun 30; 211(7):1272.
  28. Picard C, Casanova JL@. Evolution of the definition of primary immunodeficiencies. In: Primary Immunodeficiencies Diseases: A historic and scientific perspective. 1st Edited by Etzioni, Ochs HD. Academic Press, Oxford, UK, 2014:29-40.
  29. Jouanguy E@, Gineau L, Cottineau J, Béziat V, Vivier E, Casanova JL. Inborn errors of the development of human natural killer cells. Current Opinion in Allergy and Clinical Immunology. 2013 Dec;13(6):589-95.
  30. Zhang SY@, Herman M, Ciancanelli MJ, Pérez de Diego R, Sancho-Shimizu V, Abel L, Casanova JL. TLR3 immunity to infection in mice and humans. Current Opinion in Immunology. 2013 Feb;25(1):19-33.
  31. Casanova JL@, Abel L, Quintana-Murci L. Immunology taught by human genetics. Cold Spring Harbor Symposia on Quantitative Biology. 2013;78:157-72.
  32. Casanova JL@, Abel L. The genetic theory of infectious diseases: A brief history and selected illustrations. Annual Review of Genomics and Human Genetics. 2013;14:215-43.
  33. Puel A@, Cypowyj S, Maródi L, Abel L, Picard C, Casanova JL. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Current Opinion in Allergy and Clinical Immunology. 2012 Dec;12(6):616-22.
  34. Boisson-Dupuis S@, Kong XF, Okada S, Cypowyj S, Puel A, Abel L, Casanova JL. Inborn errors of human STAT1: Allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Current Opinion in Immunology. 2012 Aug;24(4):364-78.
  35. Casanova JL@, Holland SM, Notarangelo, LD. Inborn errors of human JAKs and STATs. 2012; 36(4):515-28.
  36. Casanova JL@, Conley ME, Notarangelo L. Inborn errors of Immunity. In: WE Paul (ed.) Fundamental Immunology. 7th edition. Lippincott Williams & Wilkins, Philadelphia, PA, USA, 2012; 1235-66.
  37. Casanova JL@, Abel L, Quintana-Murci L. Human TLRs and IL-1Rs in host defense: Natural insights from evolutionary, epidemiological, and clinical genetics. Annual Review of Immunology. 2011;29:447-91.
  38. Puel A@, Picard C, Cypowyj S, Lilic D, Abel L, Casanova JL. Inborn errors of mucocutaneous immunity to Candida albicans in humans: A role for IL-17 cytokines? Current Opinion in Immunology. 2010 Aug;22(4):467-74.
  39. Maródi L@, Casanova JL@. Can primary immunodeficiencies help to provide insights into infectious risks of therapeutic antibodies? Nature Reviews Immunology. 2010 May;10(5):299-300.
  40. Alcaïs A, Abel L, Casanova JL@. Human genetics of infectious diseases. In “Human genetics: Principles and approaches”, 4th Editors: F Vogel, AG Motulsky, SE Antonarakis, M Speicher. Springer-Verlag, Berlin, Heidelberg, 2010; 403-16.
  41. Notarangelo LD@, Casanova JL@. Primary immunodeficiencies: Increasing market share. Current Opinion in Immunology. 2009 Oct;21(5):461-5.
  42. Alcaïs A, Abel L, Casanova JL@. Human genetics of infectious diseases: Between proof-of-principle and paradigm. Journal of Clinical 2009 Sep;119(9):2506-14.
  43. Casanova JL@, Abel L. Revisiting Crohn's disease as a primary immunodeficiency of macrophages. Journal of Experimental Medicine. 2009 Aug 31;206(9):1839-43.
  44. Maródi L@, Casanova JL. Primary immunodeficiency diseases: The J Project. Lancet. 2009 Jun 27;373(9682):2179-81
  45. Zhang SY, Boisson-Dupuis S, Chapgier A, Yang K, Bustamante J, Puel A, Picard C, Abel L, Jouanguy E, Casanova JL@. 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. Immunological Reviews. 2008 Dec;226:29-40.
  46. Bustamante J*, Boisson-Dupuis S*, Jouanguy E*, Picard C*, Puel A*, Abel L*, Casanova JL*,@. Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Current Opinion in Immunology. 2008 Feb;20(1):39-48.
  47. Zhang SY, Jouanguy E, Sancho-Shimizu V, von Bernuth H, Yang K, Abel L, Picard C, Puel A, Casanova JL@. Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses. Immunological Reviews. 2007 Dec;220:225-36.
  48. Sancho-Shimizu V, Zhang SY, Abel L, Tardieu M, Rozenberg F, Jouanguy E, Casanova JL@. Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans. Current Opinion in Allergy and Clinical Immunology. 2007 Dec;7(6):495-505.
  49. Quintana-Murci L*, Alcaïs A*, Abel L*, Casanova JL*,@. Immunology in natura: Clinical, epidemiological, and evolutionary genetics of infectious diseases. Nature Immunology. 2007 Nov;8(11):1165-71.
  50. Casanova JL@, Abel L. Primary immunodeficiencies: A field in its infancy. 2007 Aug 3;317(5838):617-9.
  51. Casanova JL@, Abel L. Human genetics of infectious diseases: A unified theory. EMBO Journal. 2007 Feb 21;26(4):915-22.
  52. Fortin A, Abel L, Casanova JL, Gros P@. Host genetics of mycobacterial diseases in mice and men: Forward genetic studies of BCG-osis and tuberculosis. Annual Review of Genomics and Human Genetics. 2007;8:163-92.
  53. Abel L, Casanova JL@. Human genetics of infectious diseases: Fundamental insights from clinical studies. Seminars in Immunology. 2006 Dec;18(6):327-9.
  54. Picard C, Casanova JL@, Abel L. Mendelian traits that confer predisposition or resistance to specific infections in humans. Current Opinion in Immunology. 2006 Aug;18(4):383-90.
  55. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL@. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: Molecular, cellular, and clinical features. Seminars in Immunology. 2006 Dec;18(6):347-61.
  56. Casanova JL@, Abel L. Inborn errors of immunity to infection: The rule rather than the exception. Journal of Experimental Medicine. 2005 Jul 18;202(2):197-201.
  57. Alcaïs A, Mira M, Casanova JL, Schurr E, Abel L@. Genetic dissection of immunity in leprosy. Current Opinion in Immunology. 2005 Feb;17(1):44-8.
  58. Ku CL, Yang K, Bustamante J, Puel A, von Bernuth H, Filipe-Santos O, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL@. Inherited disorders of human Toll-like receptor signaling: Immunological implications. Immunological Reviews. 2005 Feb;203:10-20.
  59. Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachee M, Casanova JL@. Autosomal-dominant primary immunodeficiencies. Current Opinion in Hematology. 2005 Jan;12(1):22-30.
  60. Alcaïs A*, Fieschi C*, Abel L*, Casanova JL*,@. Tuberculosis in children and adults: Two distinct genetic diseases. Journal of Experimental Medicine. 2005; 202(12):1617-21.
  61. Casanova JL@, Abel L. Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both? Journal of Experimental Medicine. 2004 May 17;199(10):1295-9.
  62. Casanova JL@, Abel L. The human model: A genetic dissection of immunity to infection in natural conditions. Nature Reviews Immunology. 2004 Jan;4(1):55-66.
  63. Puel A, Picard C, Ku CL, Smahi A, Casanova JL@. Inherited disorders of NF-kappaB-mediated immunity in man. Current Opinion in Immunology. 2004; 16:34-41.
  64. Picard C@, Puel A, Bustamante J, Ku CL, Casanova JL. Primary immunodeficiencies associated with pneumococcal disease. Current Opinion in Allergy and Clinical Immunology. 2003 Dec;3(6):451-9.
  65. Casanova JL@, Schurr E, Abel L, Skamene E. Forward genetics of infectious diseases: Immunological impact. Trends in Immunology. 2002 Oct;23(10):469-72.
  66. Casanova JL@, Abel L@. Genetic dissection of immunity to mycobacteria: The human model. Annual Review of Immunology. 2002;20:581-620.
  67. Reichenbach J, Rosenzweig S, Döffinger R, Dupuis S, Holland SM, Casanova JL@. Mycobacterial diseases in primary immunodeficiencies. Current Opinion in Allergy and Clinical Immunology. 2001 Dec;1(6):503-11.
  68. Elliott T@, Bonneville M@, Kruisbeek A@, Walker PR@, Glaichenhaus N@, Rowland-Jones S@, Casanova JL@, Liu Y@, Wood K@, Bushell A@, Green A@. Paper alert. Immunology. Current Opinion in Immunology. 2001 Dec;13(6):625-34.
  69. Casanova JL@, Jouanguy E, Abel L. A virus finds its natural killer. Nature Genetics. 2001 May;28(1):7-9.
  70. Dupuis S, Döffinger R, Picard C, Fieschi C, Altare F, Jouanguy E, Abel L, Casanova JL@. Human interferon-gamma-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion. Immunological Reviews. 2000 Dec;178:129-37.
  71. Abel L, Casanova JL@. Genetic predisposition to clinical tuberculosis: Bridging the gap between simple and complex inheritance. American Journal of Human Genetics. 2000 Aug;67(2):274-7.
  72. Jouanguy E, Döffinger R, Dupuis S, Pallier A, Altare F, Casanova JL@. IL-12 and IFN-gamma in host defense against mycobacteria and salmonella in mice and men. Current Opinion in Immunology. 1999 Jun;11(3):346-51.
  73. Altare F, Jouanguy E, Lamhamedi S, Döffinger R, Fischer A, Casanova JL@. Mendelian susceptibility to mycobacterial infection in man. Current Opinion in Immunology. 1998 Aug;10(4):413-7.
  74. Ottenhoff TH@, Kumararatne D@, Casanova JL@. Novel human immunodeficiencies reveal the essential role of type-I cytokines in immunity to intracellular bacteria. Immunology Today. 1998 Nov;19(11):491-4.
  75. Casanova JL@, Maryanski JL@. Antigen-selected T cell receptor diversity and self-nonself homology. Immunology Today. 1993 Aug;14(8):391-4.
  76. Maryanski JL@, Luethy R, Romero P, Healy F, Drouet C, Casanova JL, Jaulin C, Kourilsky P, Corradin G. Interaction of antigenic peptides with the H-2Kdclass I MHC molecule. Seminars in Immunology. 1993 Apr;5(2):95-104.

 

†,* Equal contribution; @ Corresponding author; Underlined authors affiliated with lab.

Top Original Peer-Reviewed PublicationsAnzilotti C, Swan DJ†, Boisson B†, Deobagkar-Lele M, Oliveira C, Chabosseau P, Engelhardt KR, Xu X, Chen R, Alvarez L, Berl