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Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway
Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway
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Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway

Meyts, Isabelle ; Casanova, Jean‐Laurent

European journal of immunology, 2021-05, Vol.51 (5), p.1039-1061 [Periódico revisado por pares]

Germany: Wiley Subscription Services, Inc

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2
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study
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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Coulter, Tanya I., MRCPI ; Chandra, Anita, PhD, FRCPath ; Bacon, Chris M., PhD, FRCPath ; Babar, Judith, MRCP, FRCR ; Curtis, James, PhD ; Screaton, Nick, FRCP, FRCR ; Goodlad, John R., MD, FRCPath ; Farmer, George, MD ; Steele, Cathal Laurence, MB ; Leahy, Timothy Ronan, MRCPI ; Doffinger, Rainer, PhD, FRCPath ; Baxendale, Helen, PhD, FRCPath ; Bernatoniene, Jolanta, PhD ; Edgar, J. David M., FRCP, FRCPath ; Longhurst, Hilary J., PhD, FRCPath ; Ehl, Stephan, MD, PhD ; Speckmann, Carsten, MD ; Grimbacher, Bodo, MD, PhD ; Sediva, Anna, MD, PhD ; Milota, Tomas, MD ; Faust, Saul N., PhD, FRCPCH ; Williams, Anthony P., PhD, FRCPath ; Hayman, Grant, FRCP, FRCPath ; Kucuk, Zeynep Yesim, MD ; Hague, Rosie, MRCP, FRCPH ; French, Paul, MD, MRCS, DipFMS, FRCPath ; Brooker, Richard, FRCPCH ; Forsyth, Peter, FRCPath ; Herriot, Richard, FRCP, FRCPath ; Cancrini, Caterina, MD, PhD ; Palma, Paolo, MD, PhD ; Ariganello, Paola, MD ; Conlon, Niall, PhD, FRCPath ; Feighery, Conleth, PhD, FRCPath ; Gavin, Patrick J., MD ; Jones, Alison, PhD, FRCPCH ; Imai, Kohsuke, MD, PhD ; Ibrahim, Mohammad A.A., PhD, FRCP, FRCPath ; Markelj, Gašper, MD ; Abinun, Mario, MD, PhD ; Rieux-Laucat, Frédéric, PhD ; Latour, Sylvain, PhD ; Pellier, Isabelle, MD, PhD ; Fischer, Alain, MD, PhD ; Touzot, Fabien, MD, PhD ; Casanova, Jean-Laurent, MD, PhD ; Durandy, Anne, MD, PhD ; Burns, Siobhan O., MD, PhD ; Savic, Sinisa, PhD, FRCPath ; Kumararatne, D.S., FRCPath, DPhil (Oxon) ; Moshous, Despina, MD, PhD ; Kracker, Sven, PhD ; Vanhaesebroeck, Bart, PhD, FMedSci ; Okkenhaug, Klaus, PhD ; Picard, Capucine, MD, PhD ; Nejentsev, Sergey, MD, PhD ; Condliffe, Alison M., PhD, FRCP ; Cant, Andrew James, MD, FRCP, FRCPH

Journal of allergy and clinical immunology, 2017-02, Vol.139 (2), p.597-606.e4 [Periódico revisado por pares]

United States: Mosby

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3
Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency
Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency
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Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or IκBα Deficiency

PICARD, Capucine ; CASANOVA, Jean-Laurent ; PUEL, Anne

Clinical Microbiology Reviews, 2011-07, Vol.24 (3), p.490-497 [Periódico revisado por pares]

Washington, DC: American Society for Microbiology

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4
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency
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Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

Boisson, Bertrand ; Honda, Yoshitaka ; Ajiro, Masahiko ; Bustamante, Jacinta ; Bendavid, Matthieu ; Gennery, Andrew R ; Kawasaki, Yuri ; Ichishima, Jose ; Osawa, Mitsujiro ; Nihira, Hiroshi ; Shiba, Takeshi ; Tanaka, Takayuki ; Chrabieh, Maya ; Bigio, Benedetta ; Hur, Hong ; Itan, Yuval ; Liang, Yupu ; Okada, Satoshi ; Izawa, Kazushi ; Nishikomori, Ryuta ; Ohara, Osamu ; Heike, Toshio ; Abel, Laurent ; Puel, Anne ; Saito, Megumu K ; Casanova, Jean-Laurent ; Hagiwara, Masatoshi ; Yasumi, Takahiro

The Journal of clinical investigation, 2019-02, Vol.129 (2), p.583-597 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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5
Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency
Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency
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Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency

Alves de Medeiros, Ana Karina ; Lodewick, Evelyn ; Bogaert, Delfien J. A. ; Haerynck, Filomeen ; Van daele, Sabine ; Lambrecht, Bart ; Bosma, Sara ; Vanderdonckt, Laure ; Lortholary, Olivier ; Migaud, Mélanie ; Casanova, Jean-Laurent ; Puel, Anne ; Lanternier, Fanny ; Lambert, Jo ; Brochez, Lieve ; Dullaers, Melissa

Journal of clinical immunology, 2016-04, Vol.36 (3), p.204-209 [Periódico revisado por pares]

New York: Springer US

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6
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency
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Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

Gineau, Laure ; Cognet, Céline ; Kara, Nihan ; Lach, Francis Peter ; Dunne, Jean ; Veturi, Uma ; Picard, Capucine ; Trouillet, Céline ; Eidenschenk, Céline ; Aoufouchi, Said ; Alcaïs, Alexandre ; Smith, Owen ; Geissmann, Frédéric ; Feighery, Conleth ; Abel, Laurent ; Smogorzewska, Agata ; Stillman, Bruce ; Vivier, Eric ; Casanova, Jean-Laurent ; Jouanguy, Emmanuelle

The Journal of clinical investigation, 2012-03, Vol.122 (3), p.821-832 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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7
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
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A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

Volpi, Stefano ; Cicalese, Maria Pia ; Tuijnenburg, Paul ; Tool, Anton T.J. ; Cuadrado, Eloy ; Abu-Halaweh, Marwan ; Ahanchian, Hamid ; Alzyoud, Raed ; Akdemir, Zeynep Coban ; Barzaghi, Federica ; Blank, Alexander ; Boisson, Bertrand ; Bottino, Cristina ; Brigida, Immacolata ; Caorsi, Roberta ; Casanova, Jean-Laurent ; Chiesa, Sabrina ; Chinn, Ivan Kingyue ; Dückers, Gregor ; Enders, Anselm ; Erichsen, Hans Christian ; Forbes, Lisa R. ; Gambin, Tomasz ; Gattorno, Marco ; Karimiani, Ehsan Ghayoor ; Giliani, Silvia ; Gold, Michael S. ; Jacobsen, Eva-Maria ; Jansen, Machiel H. ; King, Jovanka R. ; Laxer, Ronald M. ; Lupski, James R. ; Mace, Emily ; Marcenaro, Stefania ; Maroofian, Reza ; Meijer, Alexander B. ; Niehues, Tim ; Notarangelo, Luigi D. ; Orange, Jordan ; Pannicke, Ulrich ; Pearson, Chris ; Picco, Paolo ; Quinn, Patrick J. ; Schulz, Ansgar ; Seeborg, Filiz ; Stray-Pedersen, Asbjørg ; Tawamie, Hasan ; van Leeuwen, Ester M.M. ; Aiuti, Alessandro ; Yeung, Rae ; Schwarz, Klaus ; Kuijpers, Taco W.

Journal of allergy and clinical immunology, 2019-06, Vol.143 (6), p.2296-2299 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Bousfiha, Aziz ; Jeddane, Leila ; Picard, Capucine ; Al-Herz, Waleed ; Ailal, Fatima ; Chatila, Talal ; Cunningham-Rundles, Charlotte ; Etzioni, Amos ; Franco, Jose Luis ; Holland, Steven M ; Klein, Christoph ; Morio, Tomohiro ; Ochs, Hans D. ; Oksenhendler, Eric ; Puck, Jennifer ; Torgerson, Troy R. ; Casanova, Jean-Laurent ; Sullivan, Kathleen E. ; Tangye, Stuart G.

Journal of clinical immunology, 2020, Vol.40 (1), p.66-81 [Periódico revisado por pares]

New York: Springer US

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9
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency
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Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Cottineau, Julien ; Kottemann, Molly C ; Lach, Francis P ; Kang, Young-Hoon ; Vély, Frédéric ; Deenick, Elissa K ; Lazarov, Tomi ; Gineau, Laure ; Wang, Yi ; Farina, Andrea ; Chansel, Marie ; Lorenzo, Lazaro ; Piperoglou, Christelle ; Ma, Cindy S ; Nitschke, Patrick ; Belkadi, Aziz ; Itan, Yuval ; Boisson, Bertrand ; Jabot-Hanin, Fabienne ; Picard, Capucine ; Bustamante, Jacinta ; Eidenschenk, Céline ; Boucherit, Soraya ; Aladjidi, Nathalie ; Lacombe, Didier ; Barat, Pascal ; Qasim, Waseem ; Hurst, Jane A ; Pollard, Andrew J ; Uhlig, Holm H ; Fieschi, Claire ; Michon, Jean ; Bermudez, Vladimir P ; Abel, Laurent ; de Villartay, Jean-Pierre ; Geissmann, Frédéric ; Tangye, Stuart G ; Hurwitz, Jerard ; Vivier, Eric ; Casanova, Jean-Laurent ; Smogorzewska, Agata ; Jouanguy, Emmanuelle

The Journal of clinical investigation, 2017-05, Vol.127 (5), p.1991-2006 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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10
Primary immunodeficiencies: 2009 update
Primary immunodeficiencies: 2009 update
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Primary immunodeficiencies: 2009 update

Notarangelo, Luigi D., MD ; Fischer, Alain, MD ; Geha, Raif S., MD ; Casanova, Jean-Laurent, MD ; Chapel, Helen, MD ; Conley, Mary Ellen, MD ; Cunningham-Rundles, Charlotte, MD, PhD ; Etzioni, Amos, MD ; Hammartröm, Lennart, MD ; Nonoyama, Shigeaki, MD ; Ochs, Hans D., MD ; Puck, Jennifer, MD ; Roifman, Chaim, MD ; Seger, Reinhard, MD ; Wedgwood, Josiah, MD, PhD

Journal of allergy and clinical immunology, 2009-12, Vol.124 (6), p.1161-1178 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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