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Bohlen Lab

Publications

Selected publications from our work on translational control, ribosome biology, and immune cell function.

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Latest Publication

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function

T Vatovec, AL Neehus, KJL Jackson, DT Avery, I Bagaric, L Erazo, CA Arango-Franco, M Ogishi, SF Ahmed, A Cederholm, AJ Russell, E Della Mina, D Al-Rifai, R Bull, L Buetow, S Sobrino, A Zhang, L Wahlster, M Michelet, N Parvaneh, J Peel, F Barzaghi, D Leardini, Q Philippot, F Saettini, J Dutrieux, B de Muylder, F Vendemini, F Baccelli, A Catala, E Gambineri, M Veltroni, V Pandiarajan, Y Aguilar, F Haerynck, M Elliott, S Turville, F Brillot, T Khan, F Consonni, L Berteloot, WA Sewell, G Rao, L Largeaud, F Conti, C Roullion, C Masson, F Pegoraro, T Ye, S Joubran, E Villalpando, B Bessot, Y Seeleuthner, T Le Voyer, J Rosain, H Li, Z Janda, E Muratore, C Soudee, E Delabesse, C Goulvestre, M Shahrooei, A Puel, I Andre, C Bole-Feysot, L Abel, M Erlacher, V Beziat, C Lagresle-Peyrou, R Cheynier, E Six, N Marr, M Pasquet, L Alsina, CC Goodnow, N Landegren, A Aiuti, P Zhang, R Masetti, DT Huang, CS Ma, JL Casanova, VG Sankaran, J Bustamante, SG Tangye, J Bohlen

Nature Immunology (2026)

Demonstrates that somatic CBL deficiency selectively impairs B cell development while sparing T cell function, revealing cell-type specific requirements for this E3 ubiquitin ligase.

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Highlighted

Selected Publications

Key papers with brief annotations explaining their significance.

Nature Immunology 2026

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function

T Vatovec, AL Neehus, KJL Jackson, DT Avery, I Bagaric, L Erazo, CA Arango-Franco, M Ogishi, SF Ahmed, A Cederholm, AJ Russell, E Della Mina, D Al-Rifai, R Bull, L Buetow, S Sobrino, A Zhang, L Wahlster, M Michelet, N Parvaneh, J Peel, F Barzaghi, D Leardini, Q Philippot, F Saettini, J Dutrieux, B de Muylder, F Vendemini, F Baccelli, A Catala, E Gambineri, M Veltroni, V Pandiarajan, Y Aguilar, F Haerynck, M Elliott, S Turville, F Brillot, T Khan, F Consonni, L Berteloot, WA Sewell, G Rao, L Largeaud, F Conti, C Roullion, C Masson, F Pegoraro, T Ye, S Joubran, E Villalpando, B Bessot, Y Seeleuthner, T Le Voyer, J Rosain, H Li, Z Janda, E Muratore, C Soudee, E Delabesse, C Goulvestre, M Shahrooei, A Puel, I Andre, C Bole-Feysot, L Abel, M Erlacher, V Beziat, C Lagresle-Peyrou, R Cheynier, E Six, N Marr, M Pasquet, L Alsina, CC Goodnow, N Landegren, A Aiuti, P Zhang, R Masetti, DT Huang, CS Ma, JL Casanova, VG Sankaran, J Bustamante, SG Tangye, J Bohlen

Nature Immunology

Demonstrates that somatic CBL deficiency selectively impairs B cell development while sparing T cell function, revealing cell-type specific requirements for this E3 ubiquitin ligase.

DOI
Journal of Human Immunity 2026

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

Q Zhou, I Bagaric, F Komma, C Prakash, H Abolhassani, Z Chavoshzadeh, L Tsao, T Vatovec, C Soudee, J Rosain, DJ Minter, C Lu, N Al-Sukaiti, B Wu, J Sun, Q Zhang, JL Casanova, Q Pan-Hammarstrom, AY Chan, T Al-Farsi, X Wang, J Bustamante, J Bohlen

Journal of Human Immunity

Expands the genetic and clinical spectrum of X-linked MCTS1 deficiency by identifying four new patients with complete or partial forms, including the first hypomorphic MCTS1 variant.

DOI
Journal of Clinical Investigation 2024

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

J Bohlen, I Bagaric, T Vatovec, M Ogishi, SF Ahmed, A Cederholm, L Buetow, S Sobrino, C Le Floc'h, CA Arango-Franco, L Seabra, M Michelet, F Barzaghi, D Leardini, F Saettini, F Vendemini, F Baccelli, A Catala, E Gambineri, M Veltroni, Y Aguilar de la Red, GI Rice, F Consonni, L Berteloot, L Largeaud, F Conti, C Roullion, C Masson, B Bessot, Y Seeleuthner, T Le Voyer, D Rinchai, J Rosain, AL Neehus, L Erazo-Borrass, H Li, Z Janda, EJ Cho, E Muratore, C Soudee, C Laine, E Delabesse, C Goulvestre, CS Ma, A Puel, SG Tangye, I Andre, C Bole-Feysot, L Abel, M Erlacher, SY Zhang, V Beziat, C Lagresle-Peyrou, E Six, M Pasquet, L Alsina, A Aiuti, P Zhang, YJ Crow, N Landegren, R Masetti, DT Huang, JL Casanova, J Bustamante

Journal of Clinical Investigation

Reveals the molecular mechanism underlying autoinflammation in CBL-deficient patients, identifying constitutive ERK activation in monocytes as the driver of disease.

DOI
Cell 2023

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria

J Bohlen, Q Zhou, Q Philippot, M Ogishi, D Rinchai, T Nieminen, S Seyedpour, N Parvaneh, N Rezaei, N Yazdanpanah, M Momenilandi, C Conil, AL Neehus, C Schmidt, CA Arango-Franco, T Le Voyer, T Khan, R Yang, J Puchan, L Erazo, M Roiuk, T Vatovec, Z Janda, I Bagaric, M Materna, A Gervais, H Li, J Rosain, JN Peel, Y Seeleuthner, JE Han, AS L'Honneur, M Moncada-Velez, M Martin-Fernandez, ME Horesh, T Kochetkov, M Schmidt, MA AlShehri, E Salo, H Saxen, G ElGhazali, A Yatim, C Soudee, F Sallusto, A Ensser, N Marr, P Zhang, D Bogunovic, A Cobat, M Shahrooei, V Beziat, L Abel, X Wang, S Boisson-Dupuis, AA Teleman, J Bustamante, Q Zhang, JL Casanova

Cell

Landmark discovery showing that MCTS1 is required for JAK2 translation in human immune cells, explaining why MCTS1-deficient patients are susceptible to mycobacterial infections.

DOI PubMed

All Publications

Complete list of publications, sorted by year.

Nature Immunology 2026

Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and function

T Vatovec, AL Neehus, KJL Jackson, DT Avery, I Bagaric, L Erazo, CA Arango-Franco, M Ogishi, SF Ahmed, A Cederholm, AJ Russell, E Della Mina, D Al-Rifai, R Bull, L Buetow, S Sobrino, A Zhang, L Wahlster, M Michelet, N Parvaneh, J Peel, F Barzaghi, D Leardini, Q Philippot, F Saettini, J Dutrieux, B de Muylder, F Vendemini, F Baccelli, A Catala, E Gambineri, M Veltroni, V Pandiarajan, Y Aguilar, F Haerynck, M Elliott, S Turville, F Brillot, T Khan, F Consonni, L Berteloot, WA Sewell, G Rao, L Largeaud, F Conti, C Roullion, C Masson, F Pegoraro, T Ye, S Joubran, E Villalpando, B Bessot, Y Seeleuthner, T Le Voyer, J Rosain, H Li, Z Janda, E Muratore, C Soudee, E Delabesse, C Goulvestre, M Shahrooei, A Puel, I Andre, C Bole-Feysot, L Abel, M Erlacher, V Beziat, C Lagresle-Peyrou, R Cheynier, E Six, N Marr, M Pasquet, L Alsina, CC Goodnow, N Landegren, A Aiuti, P Zhang, R Masetti, DT Huang, CS Ma, JL Casanova, VG Sankaran, J Bustamante, SG Tangye, J Bohlen

Nature Immunology

Demonstrates that somatic CBL deficiency selectively impairs B cell development while sparing T cell function, revealing cell-type specific requirements for this E3 ubiquitin ligase.

DOI
Journal of Human Immunity 2026

Complete and partial forms of X-linked MCTS1 deficiency in patients with mycobacterial disease

Q Zhou, I Bagaric, F Komma, C Prakash, H Abolhassani, Z Chavoshzadeh, L Tsao, T Vatovec, C Soudee, J Rosain, DJ Minter, C Lu, N Al-Sukaiti, B Wu, J Sun, Q Zhang, JL Casanova, Q Pan-Hammarstrom, AY Chan, T Al-Farsi, X Wang, J Bustamante, J Bohlen

Journal of Human Immunity

Expands the genetic and clinical spectrum of X-linked MCTS1 deficiency by identifying four new patients with complete or partial forms, including the first hypomorphic MCTS1 variant.

DOI
Science Immunology 2025

Human LY9 governs CD4+ T cell IFN-γ immunity to Mycobacterium tuberculosis

M Ogishi, J Puchan, R Yang, AA Arias, JE Han, T Nguyen, R Gutiérrez-Cózar, C Conil, Y Seeleuthner, D Rinchai, M Chaldebas, M Chrabieh, C Laine, CA Arango-Franco, J Bohlen, J Rosain, T Le Voyer, Q Philippot, P Zhang, T Khan, AL Neehus, M Materna, JN Peel, B Pillay, F Mele, M Weisshaar, S Jovic, D Lee, C Soudee, A Cobat, F Al Ali, MMA Ata, M Migaud, R Levy, B Boisson, SG Tangye, CS Ma, V Beziat, F Sallusto, N Marr, S Boisson-Dupuis, E Jouanguy, A Puel, J Bustamante, L Abel, JL Casanova

Science Immunology

DOI
EJC Paediatric Oncology 2025

Coagulative abnormalities in patients with CBL syndrome

E Muratore, J Bohlen, D Leardini, C Garcia, M Gadea, A Catala, M Michelet, M Pasquet, F Saettini, F Consonni, L Berteloot, C Masson, B Bessot, T Le Voyer, J Rosain, H Li, Z Janda, E Gambineri, M Veltroni, F Haerynck, M Elliott, T Khan, N Parvaneh, Y Seeleuthner, C Soudee, A Puel, I Andre, L Abel, M Erlacher, V Beziat, E Six, M Pasquet, L Alsina, A Aiuti, P Zhang, N Landegren, R Masetti, JL Casanova, J Bustamante

EJC Paediatric Oncology

DOI
Immunity 2024

Impaired development of memory B cells and antibody responses in humans and mice deficient in PD-1 signaling

M Ogishi, K Kitaoka, KL Good-Jacobson, D Rinchai, B Zhang, J Wang, V Gies, G Rao, T Nguyen, DT Avery, T Khan, ME Smithmyer, J Mackie, R Yang, AA Arias, T Asano, K Ponsin, M Chaldebas, P Zhang, JN Peel, J Bohlen, R Levy, SJ Pelham, WT Lei, JE Han, I Fagniez, M Chrabieh, C Laine, D Langlais, C Gruber, F Al Ali, M Rahman, C Aytekin, B Benson, MJ Dufort, C Domingo-Vila, K Moriya, M Shlomchik, G Uzel, PE Gray, D Suan, K Preece, I Chua, S Okada, S Chikuma, H Kiyonari, TI Tree, D Bogunovic, P Gros, N Marr, C Speake, RA Oram, V Beziat, J Bustamante, L Abel, B Boisson, AS Korganow, CS Ma, MB Johnson, K Chamoto, S Boisson-Dupuis, T Honjo, JL Casanova, SG Tangye

Immunity

DOI
Journal of Clinical Investigation 2024

Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

J Bohlen, I Bagaric, T Vatovec, M Ogishi, SF Ahmed, A Cederholm, L Buetow, S Sobrino, C Le Floc'h, CA Arango-Franco, L Seabra, M Michelet, F Barzaghi, D Leardini, F Saettini, F Vendemini, F Baccelli, A Catala, E Gambineri, M Veltroni, Y Aguilar de la Red, GI Rice, F Consonni, L Berteloot, L Largeaud, F Conti, C Roullion, C Masson, B Bessot, Y Seeleuthner, T Le Voyer, D Rinchai, J Rosain, AL Neehus, L Erazo-Borrass, H Li, Z Janda, EJ Cho, E Muratore, C Soudee, C Laine, E Delabesse, C Goulvestre, CS Ma, A Puel, SG Tangye, I Andre, C Bole-Feysot, L Abel, M Erlacher, SY Zhang, V Beziat, C Lagresle-Peyrou, E Six, M Pasquet, L Alsina, A Aiuti, P Zhang, YJ Crow, N Landegren, R Masetti, DT Huang, JL Casanova, J Bustamante

Journal of Clinical Investigation

Reveals the molecular mechanism underlying autoinflammation in CBL-deficient patients, identifying constitutive ERK activation in monocytes as the driver of disease.

DOI
Journal of Clinical Investigation 2024

IL-7-dependent and -independent lineages of IL-7R-dependent human T cells

CA Arango-Franco, M Ogishi, S Unger, OM Delmonte, JC Orrego, A Yatim, MM Velasquez-Lopera, AF Zea-Vera, J Bohlen, M Chbihi, A Fayand, JP Sanchez, J Rojas, Y Seeleuthner, T Le Voyer, Q Philippot, KJ Payne, A Gervais, LV Erazo-Borrass, LA Correa-Londono, A Cederholm, A Gallon-Duque, P Goncalves, JM Doisne, L Horev, B Charmeteau-de Muylder, JA Alvarez, DM Arboleda, L Perez-Zapata, E Vasquez-Echeverri, M Moncada-Velez, JA Lopez, Y Caicedo, B Palterer, PJ Patino, CJ Montoya, M Chaldebas, P Zhang, T Nguyen, CS Ma, M Jeljeli, JF Alzate, F Cabarcas, T Khan, D Rinchai, JL Pretet, B Boisson, N Marr, R Ibrahim, V Molho-Pessach, S Boisson-Dupuis, D Kiritsi, JT Barata, N Landegren, B Neven, L Abel, A Lisco, V Beziat, E Jouanguy, J Bustamante, JP Di Santo, SG Tangye, LD Notarangelo, R Cheynier, K Natsuga, AA Arias, JL Franco, K Warnatz, JL Casanova, A Puel

Journal of Clinical Investigation

DOI
Proceedings of the National Academy of Sciences U.S.A. 2024

A sensitive assay for measuring whole-blood responses to type I IFNs

A Gervais, C Le Floc'h, T Le Voyer, L Bizien, J Bohlen, F Celmeli, F Al Qureshah, C Masson, J Rosain, M Chbihi, R Levy, R Castagnoli, A Rothenbuhler, E Jouanguy, Q Zhang, SY Zhang, V Beziat, J Bustamante, A Puel, P Bastard, JL Casanova

Proceedings of the National Academy of Sciences U.S.A.

DOI
Nature 2024

Tuberculosis in otherwise healthy adults with inherited TNF deficiency

AA Arias, AL Neehus, M Ogishi, V Meynier, A Krebs, T Lazarov, AM Lee, CA Arango-Franco, R Yang, J Orrego, MC Berndt, J Rojas, H Li, D Rinchai, L Erazo-Borrass, JE Han, B Pillay, K Ponsin, M Chaldebas, Q Philippot, J Bohlen, J Rosain, T Le Voyer, T Janotte, K Amarajeeva, C Soudee, M Brollo, K Wiegmann, Q Marquant, Y Seeleuthner, D Lee, C Laine, D Kloos, R Bailey, P Bastard, N Keating, F Rapaport, T Khan, M Moncada-Velez, MC Carmona, C Obando, J Alvarez, JC Catano, LL Martinez-Rosado, JP Sanchez, M Tejada-Giraldo, AS L'Honneur, ML Agudelo, LJ Perez-Zapata, DM Arboleda, JF Alzate, F Cabarcas, A Zuluaga, SJ Pelham, A Ensser, M Schmidt, MM Velasquez-Lopera, E Jouanguy, A Puel, M Kronke, S Ghirardello, A Borghesi, S Pahari, B Boisson, S Pittaluga, CS Ma, JF Emile, LD Notarangelo, SG Tangye, N Marr, N Lachmann, H Salvator, LS Schlesinger, P Zhang, MS Glickman, CF Nathan, F Geissmann, L Abel, JL Franco, J Bustamante, JL Casanova, S Boisson-Dupuis

Nature

DOI
Journal of Experimental Medicine 2024

Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus

C David, CA Arango-Franco, M Badonyi, J Fouchet, GI Rice, B Didry-Barca, L Maisonneuve, L Seabra, R Kechiche, C Masson, A Cobat, L Abel, E Talouarn, V Beziat, C Deswarte, K Livingstone, C Paul, G Malik, A Ross, J Adam, J Walsh, S Kumar, D Bonnet, C Bodemer, B Bader-Meunier, JA Marsh, JL Casanova, YJ Crow, B Manoury, ML Fremond, J Bohlen, A Lepelley

Journal of Experimental Medicine

DOI
Journal of Clinical Investigation 2024

Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individuals

JN Peel, R Yang, T Le Voyer, A Gervais, J Rosain, P Bastard, A Behere, A Cederholm, A Bodansky, Y Seeleuthner, C Conil, JY Ding, WT Lei, L Bizien, C Soudee, M Migaud, M Ogishi, A Yatim, D Lee, J Bohlen, T Perpoint, L Perez, F Messina, R Genet, L Karkowski, M Blot, E Lafont, L Toullec, C Goulvestre, S Mehlal-Sedkaoui, J Sallette, F Martin, A Puel, E Jouanguy, MS Anderson, N Landegren, P Tiberghien, L Abel, S Boisson-Dupuis, J Bustamante, CL Ku, JL Casanova

Journal of Clinical Investigation

DOI
Cell 2024

Human inherited CCR2 deficiency underlies progressive polycystic lung disease

AL Neehus, B Carey, M Landekic, P Panikulam, G Deutsch, M Ogishi, CA Arango-Franco, Q Philippot, M Modaresi, I Mohammadzadeh, MC Berndt, D Rinchai, T Le Voyer, J Rosain, M Momenilandi, M Martin-Fernandez, T Khan, J Bohlen, JE Han, A Deslys, M Bernard, T Gajardo-Carrasco, C Soudee, C Le Floc'h, M Migaud, Y Seeleuthner, MS Jang, E Nikolouli, S Seyedpour, H Begueret, JF Emile, P Le Guen, G Tavazzi, CNJ Colombo, F Capra Marzani, M Angelini, F Trespidi, S Ghirardello, N Alipour, A Molitor, R Carapito, M Mazloomrezaei, H Rokni-Zadeh, M Changi-Ashtiani, C Brouzes, P Vargas, A Borghesi, N Lachmann, S Bahram, B Crestani, M Fayon, F Galode, S Pahari, LS Schlesinger, N Marr, D Bogunovic, S Boisson-Dupuis, V Beziat, L Abel, R Borie, LR Young, R Deterding, M Shahrooei, N Rezaei, N Parvaneh, D Craven, P Gros, D Malo, FE Sepulveda, LM Nogee, N Aladjidi, BC Trapnell, JL Casanova, J Bustamante

Cell

DOI
Cell 2023

Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria

J Bohlen, Q Zhou, Q Philippot, M Ogishi, D Rinchai, T Nieminen, S Seyedpour, N Parvaneh, N Rezaei, N Yazdanpanah, M Momenilandi, C Conil, AL Neehus, C Schmidt, CA Arango-Franco, T Le Voyer, T Khan, R Yang, J Puchan, L Erazo, M Roiuk, T Vatovec, Z Janda, I Bagaric, M Materna, A Gervais, H Li, J Rosain, JN Peel, Y Seeleuthner, JE Han, AS L'Honneur, M Moncada-Velez, M Martin-Fernandez, ME Horesh, T Kochetkov, M Schmidt, MA AlShehri, E Salo, H Saxen, G ElGhazali, A Yatim, C Soudee, F Sallusto, A Ensser, N Marr, P Zhang, D Bogunovic, A Cobat, M Shahrooei, V Beziat, L Abel, X Wang, S Boisson-Dupuis, AA Teleman, J Bustamante, Q Zhang, JL Casanova

Cell

Landmark discovery showing that MCTS1 is required for JAK2 translation in human immune cells, explaining why MCTS1-deficient patients are susceptible to mycobacterial infections.

DOI PubMed
Science Immunology 2023

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria

Q Philippot, M Ogishi, J Bohlen, J Puchan, AA Arias, T Nguyen, M Martin-Fernandez, C Conil, D Rinchai, M Momenilandi, SA Mahdaviani, M Keramatipour, J Rosain, R Yang, T Khan, AL Neehus, M Materna, JE Han, J Peel, F Mele, M Weisshaar, S Jovic, P Bastard, R Levy, T Le Voyer, P Zhang, MRL Maglorius Renkilaraj, CA Arango-Franco, S Pelham, Y Seeleuthner, M Pochon, MMA Ata, F Al Ali, M Migaud, C Soudee, T Kochetkov, A Molitor, R Carapito, S Bahram, B Boisson, C Fieschi, D Mansouri, N Marr, S Okada, M Shahrooei, N Parvaneh, Z Chavoshzadeh, A Cobat, D Bogunovic, L Abel, SG Tangye, CS Ma, V Beziat, F Sallusto, S Boisson-Dupuis, J Bustamante, JL Casanova, A Puel

Science Immunology

DOI
Cell 2023

Human IRF1 governs macrophagic IFN-γ immunity to mycobacteria

J Rosain, AL Neehus, J Manry, R Yang, J Le Pen, W Daher, Z Liu, YH Chan, N Tahuil, O Turel, M Bourgey, M Ogishi, JM Doisne, HM Izquierdo, T Shirasaki, T Le Voyer, A Guerin, P Bastard, M Moncada-Velez, JE Han, T Khan, F Rapaport, SH Hong, A Cheung, K Haake, BC Mindt, L Perez, Q Philippot, D Lee, P Zhang, D Rinchai, F Al Ali, MMA Ata, M Rahman, JN Peel, S Heissel, H Molina, Y Kendir-Demirkol, R Bailey, S Zhao, J Bohlen, M Mancini, Y Seeleuthner, M Roelens, L Lorenzo, C Soudee, MEJ Paz, ML Gonzalez, M Jeljeli, J Soulier, S Romana, AS L'Honneur, M Materna, R Martinez-Barricarte, M Pochon, C Oleaga-Quintas, A Michev, M Migaud, R Levy, MA Alyanakian, F Rozenberg, CA Croft, G Vogt, JF Emile, L Kremer, CS Ma, JH Fritz, SM Lemon, AN Spaan, N Manel, L Abel, MR MacDonald, S Boisson-Dupuis, N Marr, SG Tangye, JP Di Santo, Q Zhang, SY Zhang, CM Rice, V Beziat, N Lachmann, D Langlais, JL Casanova, P Gros, J Bustamante

Cell

DOI
Nature 2023

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

T Le Voyer, AV Parent, X Liu, A Cederholm, A Gervais, J Rosain, T Nguyen, M Perez Lorenzo, E Rackaityte, D Rinchai, P Zhang, L Bizien, G Hancioglu, P Ghillani-Dalbin, JL Charuel, Q Philippot, MS Gueye, MRL Maglorius Renkilaraj, M Ogishi, C Soudee, M Migaud, F Rozenberg, M Momenilandi, Q Riller, L Imberti, OM Delmonte, G Muller, B Keller, J Orrego, WA Franco Gallego, T Rubin, M Emiroglu, N Parvaneh, D Eriksson, M Aranda-Guillen, DI Berrios, L Vong, CH Katelaris, P Mustillo, J Raedler, J Bohlen, JB Celik, C Astudillo, S Winter, S Boisson-Dupuis, E Oksenhendler, S Okada, O Caluseriu, MV Ursini, E Ballot, G Lafarge, T Freiberger, CA Arango-Franco, R Levy, A Aiuti, S Al-Muhsen, F Al-Mulla, E Andreakos, AA Arias, HB Feldman, P Bastard, A Bondarenko, A Borghesi, AA Bousfiha, P Brodin, Y Bryceson, G Casari, J Christodoulou, R Colobran, A Condino-Neto, J Fellay, C Flores, JL Franco, F Haerynck, R Halwani, L Hammarstrom, JR Heath, EWY Hsieh, Y Itan, E Kaja, K Kisand, CL Ku, Y Ling, YL Lau, D Mansouri, I Meyts, JD Milner, TH Mogensen, A Novelli, G Novelli, K Okamoto, T Ozcelik, R Perez de Diego, J Perez-Tur, DS Perlin, C Prando, A Pujol, L Quintana-Murci, L Renia, I Resnick, C Rodriguez-Gallego, V Sancho-Shimizu, A Sediva, MRJ Seppanen, M Shahrooei, A Shcherbina, P Soler Palacin, G Pesole, AN Spaan, HC Su, I Tancevski, A Abou Tayoun, A Amara, G Gorochov, SG Temel, C Thorball, P Tiberghien, S Trouillet-Assant, S Turvey, KMF Uddin, MJ Uddin, D van de Beek, M Vidigal, DC Vinh, H von Bernuth, J Wauters, M Zatz, SY Zhang, LFP Ng, C McLean, A Guffroy, JL DeRisi, D Yu, C Miller, Y Feng, A Guichard, V Beziat, J Bustamante, Q Pan-Hammarstrom, Y Zhang, LB Rosen, SM Holland, M Bosticardo, H Kenney, R Castagnoli, CA Slade, K Boztug, N Mahlaoui, S Latour, RS Abraham, V Lougaris, F Hauck, A Sediva, F Atschekzei, G Sogkas, MC Poli, MA Slatter, B Palterer, MD Keller, A Pinzon-Charry, A Sullivan, L Droney, D Suan, M Wong, A Kane, H Hu, C Ma, H Grombiriokova, P Ciznar, I Dalal, N Aladjidi, M Hie, E Lazaro, J Franco, S Keles, M Malphettes, M Pasquet, ME Maccari, A Meinhardt, A Ikinciogullari, M Shahrooei, F Celmeli, P Frosk, CC Goodnow, PE Gray, A Belot, HS Kuehn, SD Rosenzweig, M Miyara, F Licciardi, A Servettaz, V Barlogis, G Le Guenno, VM Herrmann, T Kuijpers, G Ducoux, F Sarrot-Reynauld, C Schuetz, C Cunningham-Rundles, F Rieux-Laucat, SG Tangye, C Sobacchi, R Doffinger, K Warnatz, B Grimbacher, C Fieschi, L Berteloot, VL Bryant, S Trouillet Assant, HC Su, B Neven, L Abel, Q Zhang, B Boisson, A Cobat, E Jouanguy, O Kampe, P Bastard, CM Roifman, N Landegren, LD Notarangelo, MS Anderson, JL Casanova, A Puel

Nature

DOI
Journal of Experimental Medicine 2023

Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosis

M Ogishi, R Yang, R Rodriguez, DP Golec, E Martin, Q Philippot, J Bohlen, SJ Pelham, AA Arias, T Khan, M Ata, F Al Ali, F Rozenberg, XF Kong, M Chrabieh, C Laine, WT Lei, JE Han, Y Seeleuthner, Z Kaul, E Jouanguy, V Beziat, L Youssefian, H Vahidnezhad, VK Rao, B Neven, C Fieschi, D Mansouri, M Shahrooei, S Pekcan, G Alkan, M Emiroglu, H Tokgoz, J Uitto, F Hauck, J Bustamante, L Abel, S Keles, N Parvaneh, N Marr, PL Schwartzberg, S Latour, JL Casanova, S Boisson-Dupuis

Journal of Experimental Medicine

DOI
Journal of Experimental Medicine 2022

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

M Ogishi, AA Arias, R Yang, JE Han, P Zhang, D Rinchai, J Halpern, J Mulwa, N Keating, M Chrabieh, C Laine, Y Seeleuthner, N Ramirez-Alejo, N Nekooie-Marnany, A Guennoun, I Muller-Fleckenstein, B Fleckenstein, SS Kilic, Y Minegishi, S Ehl, P Kaiser-Labusch, Y Kendir-Demirkol, F Rozenberg, A Errami, SY Zhang, Q Zhang, J Bohlen, Q Philippot, A Puel, E Jouanguy, Z Pourmoghaddas, S Bakhtiar, AM Willasch, G Horneff, G Llanora, LP Shek, LYA Chai, SH Tay, HH Rahimi, SA Mahdaviani, S Nepesov, AA Bousfiha, EH Erdeniz, A Karbuz, N Marr, C Navarrete, M Adeli, L Hammarstrom, H Abolhassani, N Parvaneh, S Al Muhsen, MF Alosaimi, F Alsohime, M Nourizadeh, M Moin, R Arnaout, S Alshareef, J El-Baghdadi, F Genel, R Sherkat, A Kiykim, E Yucel, S Keles, J Bustamante, L Abel, JL Casanova, S Boisson-Dupuis

Journal of Experimental Medicine

DOI
Journal of Experimental Medicine 2022

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia

Q Zhang, D Matuozzo, J Le Pen, D Lee, L Moens, T Asano, J Bohlen, Z Liu, M Moncada-Velez, Y Kendir-Demirkol, H Jing, L Bizien, A Marchal, H Abolhassani, S Delafontaine, G Bucciol, COVID Human Genetic Effort, I Meyts, E Jouanguy, L Hammarstrom, Q Pan-Hammarstrom, B Boisson, P Bastard, HC Su, S Boisson-Dupuis, L Abel, CM Rice, SY Zhang, A Cobat, JL Casanova

Journal of Experimental Medicine

DOI

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