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Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant.
Published in:
Case Reports in Immunology, 2013, p. 1, doi. 10.1155/2013/323614
By:
- Reyes, Saul Oswaldo Lugo;
- Mahlaoui, Nizar;
- Prando, Carolina;
- Galicia, Lizbeth Blancas;
- Hubeau, Marjorie;
- Blanche, Stéphane;
- Picard, Capucine;
- Casanova, Jean-Laurent;
- Bustamante, Jacinta
Publication type:
Article
Analysis of the interleukin-12/interferon-gamma pathway in children with non-tuberculous mycobacterial cervical lymphadenitis.
Published in:
2007
By:
- Serour, Francis;
- Mizrahi, Avraham;
- Somekh, Eli;
- Feinberg, Jacqueline;
- Picard, Capucine;
- Casanova, Jean-Laurent;
- Dalal, Ilan
Publication type:
journal article
Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitis.
Published in:
European Journal of Pediatrics, 2007, v. 166, n. 8, p. 835, doi. 10.1007/s00431-006-0338-2
By:
- Serour, Francis;
- Mizrahi, Avraham;
- Somekh, Eli;
- Feinberg, Jacqueline;
- Picard, Capucine;
- Casanova, Jean-Laurent;
- Dalal, Ilan
Publication type:
Article
Characteristics of HIV-infected children recently diagnosed in Paris, France.
Published in:
2006
By:
- Macassa, Eugenia;
- Burgard, Marianne;
- Veber, Florence;
- Picard, Capucine;
- Neven, Bénédicte;
- Malhaoui, Nizar;
- Rouzioux, Christine;
- Blanche, Stéphane;
- Neven, Bénédicte;
- Blanche, Stéphane
Publication type:
journal article
Kaposi's sarcoma in a child with Wiskott-Aldrich syndrome.
Published in:
2006
By:
- Picard, Capucine;
- Mellouli, Fethi;
- Duprez, Renan;
- Chédeville, Gaëlle;
- Neven, Bénédicte;
- Fraitag, Sylvie;
- Delaunay, Jean;
- Le Deist, Françoise;
- Fischer, Alain;
- Blanche, Stéphane;
- Bodemer, Christine;
- Gessain, Antoine;
- Casanova, Jean-Laurent;
- Bejaoui, Mohamed;
- Chédeville, Gaëlle;
- Neven, Bénédicte;
- Le Deist, Françoise;
- Blanche, Stéphane
Publication type:
journal article
Burkholderia pseudomallei infection in chronic granulomatous disease.
Published in:
2006
By:
- Renella, Raffaele;
- Perez, Jean-Marie;
- Chollet-Martin, Sylvie;
- Sarnacki, Sabine;
- Fischer, Alain;
- Blanche, Stéphane;
- Casanova, Jean-Laurent;
- Picard, Capucine;
- Blanche, Stéphane
Publication type:
journal article
Inherited defects in the interferon-gamma receptor or interleukin-12 signalling pathways are not sufficient to cause allergic disease in children.
Published in:
2005
By:
- Wood, Philip M. D.;
- Fieschi, Claire;
- Picard, Capucine;
- Ottenhoff, Tom H. M.;
- Casanova, Jean-Laurent;
- Kumararatne, Dinakantha S.
Publication type:
journal article
Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.
Published in:
European Journal of Immunology, 2014, v. 44, n. 10, p. 2854, doi. 10.1002/eji.201444669
By:
- Picard, Capucine;
- Fischer, Alain
Publication type:
Article
Human plasma cells express granzyme B.
Published in:
European Journal of Immunology, 2014, v. 44, n. 1, p. 275, doi. 10.1002/eji.201343711
By:
- Xu, Wei;
- Narayanan, Priya;
- Kang, Ning;
- Clayton, Sandra;
- Ohne, Yoichiro;
- Shi, Peiqing;
- Herve, Marie‐Cecile;
- Balderas, Robert;
- Picard, Capucine;
- Casanova, Jean‐Laurent;
- Gorvel, Jean‐Pierre;
- Oh, Sangkon;
- Pascual, Virginia;
- Banchereau, Jacques
Publication type:
Article
Experimental and natural infections in My D88- and IRAK-4-deficient mice and humans.
Published in:
European Journal of Immunology, 2012, v. 42, n. 12, p. 3126, doi. 10.1002/eji.201242683
By:
- von Bernuth, Horst;
- Picard, Capucine;
- Puel, Anne;
- Casanova, Jean-Laurent
Publication type:
Article
Immunity to infection in IL-17-deficient mice and humans.
Published in:
European Journal of Immunology, 2012, v. 42, n. 9, p. 2246, doi. 10.1002/eji.201242605
By:
- Cypowyj, Sophie;
- Picard, Capucine;
- Maródi, László;
- Casanova, Jean-Laurent;
- Puel, Anne
Publication type:
Article
Loss of RASGRP1 in humans impairs T‐cell expansion leading to Epstein‐Barr virus susceptibility.
Published in:
EMBO Molecular Medicine, 2018, v. 10, n. 2, p. 188, doi. 10.15252/emmm.201708292
By:
- Winter, Sarah;
- Martin, Emmanuel;
- Boutboul, David;
- Lenoir, Christelle;
- Boudjemaa, Sabah;
- Petit, Arnaud;
- Picard, Capucine;
- Fischer, Alain;
- Leverger, Guy;
- Latour, Sylvain
Publication type:
Article
Severe cutaneous bacillus Calmette-Guérin infection in immunocompromised children: the relevance of skin biopsy.
Published in:
Journal of Cutaneous Pathology, 2013, v. 40, n. 1, p. 30, doi. 10.1111/cup.12048
By:
- Gantzer, Amélie;
- Neven, Bénédicte;
- Picard, Capucine;
- Brousse, Nicole;
- Lortholary, Olivier;
- Fischer, Alain;
- Bodemer, Christine;
- Fraitag, Sylvie
Publication type:
Article
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 102, doi. 10.1186/s13023-014-0183-8
By:
- Desplantes, Claire;
- Fremond, Marie Louis;
- Beaupain, Blandine;
- Luc Harousseau, Jean;
- Buzyn, Agnès;
- Pellier, Isabelle;
- Roques, Gaelle;
- Morville, Pierre;
- Paillard, Catherine;
- Bruneau, Julie;
- Pinson, Lucile;
- Jeziorski, Eric;
- Vannier, Jean Pierre;
- Picard, Capucine;
- Bellanger, Florence;
- Romero, Norma;
- de Pontual, Loïc;
- Lapillonne, Hélène;
- Lutz, Patrick;
- Bellanné Chantelot, Christine
Publication type:
Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-56
By:
- Velasco, Guillaume;
- Walton, Emma L.;
- Sterlin, Delphine;
- Hédouin, Sabrine;
- Hirohisa Nitta;
- Ito Yuya;
- Fouyssac, Fanny;
- Mégarbané, André;
- Hiroyuki Sasaki;
- Picard, Capucine;
- Francastel, Claire
Publication type:
Article
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry.
Published in:
2014
By:
- Desplantes, Claire;
- Fremond, Marie Louise;
- Beaupain, Blandine;
- Harousseau, Jean Luc;
- Buzyn, Agnès;
- Pellier, Isabelle;
- Roques, Gaelle;
- Morville, Pierre;
- Paillard, Catherine;
- Bruneau, Julie;
- Pinson, Lucile;
- Jeziorski, Eric;
- Vannier, Jean Pierre;
- Picard, Capucine;
- Bellanger, Florence;
- Romero, Norma;
- de Pontual, Loïc;
- Lapillonne, Hélène;
- Lutz, Patrick;
- Chantelot, Christine Bellanné
Publication type:
Journal Article
Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology.
Published in:
2014
By:
- Velasco, Guillaume;
- Walton, Emma L;
- Sterlin, Delphine;
- Hédouin, Sabrine;
- Nitta, Hirohisa;
- Ito, Yuya;
- Fouyssac, Fanny;
- Mégarbané, André;
- Sasaki, Hiroyuki;
- Picard, Capucine;
- Francastel, Claire
Publication type:
journal article
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 12, p. 5516, doi. 10.1172/JCI79100
By:
- Jeremiah, Nadia;
- Neven, Bénédicte;
- Gentili, Matteo;
- Callebaut, Isabelle;
- Maschalidi, Sophia;
- Stolzenberg, Marie-Claude;
- Goudin, Nicolas;
- Frémond, Marie-Louis;
- Nitschke, Patrick;
- Molina, Thierry J.;
- Blanche, Stéphane;
- Picard, Capucine;
- Rice, Gillian I.;
- Crow, Yanick J.;
- Manel, Nicolas;
- Fischer, Alain;
- Bader-Meunier, Brigitte;
- Rieux-Laucat, Frédéric
Publication type:
Article
A human immunodeficiency caused by mutations in the PIK3R1 gene.
Published in:
Journal of Clinical Investigation, 2014, v. 124, n. 9, p. 3923, doi. 10.1172/JCI75746
By:
- Deau, Marie-Céline;
- Heurtier, Lucie;
- Frange, Pierre;
- Suarez, Felipe;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Cavazzana, Marina;
- Picard, Capucine;
- Durandy, Anne;
- Fischer, Alain;
- Kracker, Sven
Publication type:
Article
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3239, doi. 10.1172/JCI62949
By:
- Crequer, Amandine;
- Troeger, Anja;
- Patin, Etienne;
- Ma, Cindy S.;
- Picard, Capucine;
- Pedergnana, Vincent;
- Fieschi, Claire;
- Lim, Annick;
- Abhyankar, Avinash;
- Gineau, Laure;
- Mueller-Fleckenstein, Ingrid;
- Schmidt, Monika;
- Taieb, Alain;
- Krueger, James;
- Abel, Laurent;
- Tangye, Stuart G.;
- Orth, Gérard;
- Williams, David A.;
- Casanova, Jean-Laurent;
- Jouanguy, Emmanuelle
Publication type:
Article
Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency.
Published in:
Journal of Clinical Investigation, 2012, v. 122, n. 3, p. 821, doi. 10.1172/JCI61014
By:
- 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
Publication type:
Article
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.
Published in:
2011
By:
- Magerus-Chatinet, Aude;
- Neven, Bénédicte;
- Stolzenberg, Marie-Claude;
- Daussy, Cécile;
- Arkwright, Peter O.;
- Lanzarotti, Nina;
- Schaffner, Catherine;
- Cluet-Dennetiere, Sophie;
- Haerynck, Filomeen;
- Michel, Gérard;
- Bole-Feysot, Christine;
- Zarhrate, Mohammed;
- Radford-Weiss, Isabelle;
- Romana, Serge P.;
- Picard, Capucine;
- Fischer, Alain;
- Rieux-Laucat, Frédéric;
- Neven, Bénédicte;
- Daussy, Cécile;
- Arkwright, Peter D
Publication type:
journal article
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Published in:
2009
By:
- Côte, Marjorie;
- Ménager, Mickaël M.;
- Burgess, Agathe;
- Mahlaoui, Nizar;
- Picard, Capucine;
- Schaffner, Catherine;
- Al-Manjomi, Fahad;
- Al-Harbi, Musa;
- Alangari, Abdullah;
- Le Deist, Françoise;
- Gennery, Andrew R.;
- Prince, Nathalie;
- Cariou, Astrid;
- Nitschke, Patrick;
- Blank, Ulrich;
- El-Ghazali, Gehad;
- Ménasché, Gaël;
- Latour, Sylvain;
- Fischer, Alain;
- de Saint Basile, Geneviève
Publication type:
journal article
Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.04494
By:
- MacDuff, Donna A.;
- Reese, Tiffany A.;
- Kimmey, Jacqueline M.;
- Weiss, Leslie A.;
- Song, Christina;
- Xin Zhang;
- Kambal, Amal;
- Duan, Erning;
- Carrero, Javier A.;
- Boisson, Bertrand;
- Laplantine, Emmanuel;
- Israel, Alain;
- Picard, Capucine;
- Colonna, Marco;
- Edelson, Brian T.;
- Sibley, L. David;
- Stallings, Christina L.;
- Casanova, Jean-Laurent;
- Iwai, Kazuhiro;
- Virgin, Herbert W.
Publication type:
Article
Phenotypic complementation of genetic immunodeiciency by chronic herpesvirus infection.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.04494.001
By:
- MacDuff, Donna A.;
- Reese, Tiffany A.;
- Kimmey, Jacqueline M.;
- Weiss, Leslie A.;
- Song, Christina;
- Xin Zhang;
- Kambal, Amal;
- Duan, Erning;
- Carrero, Javier A.;
- Boisson, Bertrand;
- Laplantine, Emmanuel;
- Israel, Alain;
- Picard, Capucine;
- Colonna, Marco;
- Edelson, Brian T.;
- Sibley, L. David;
- Stallings, Christina L.;
- Casanova, Jean-Laurent;
- Kazuhiro Iwai;
- Virgin, Herbert W.
Publication type:
Article
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
Published in:
Journal of Human Genetics, 2013, v. 58, n. 7, p. 455, doi. 10.1038/jhg.2013.56
By:
- Nitta, Hirohisa;
- Unoki, Motoko;
- Ichiyanagi, Kenji;
- Kosho, Tomoki;
- Shigemura, Tomonari;
- Takahashi, Hiroshi;
- Velasco, Guillaume;
- Francastel, Claire;
- Picard, Capucine;
- Kubota, Takeo;
- Sasaki, Hiroyuki
Publication type:
Article
Interleukin (IL)-12 and IL-23 Are Key Cytokines for Immunity against Salmonella in Humans.
Published in:
2004
By:
- MacLennan, Calman;
- Fieschi, Claire;
- Lammas, David A.;
- Picard, Capucine;
- Dorman, Susan E.;
- Sanal, Ozden;
- MacLennan, Jenny M.;
- Holland, Steven M.;
- Ottenhoff, Tom H. M.;
- Casanova, Jean-Laurent;
- Kumararatne, Dinakantha S.
Publication type:
Report
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network.
Published in:
Nature Genetics, 2015, v. 47, n. 11, p. 1334, doi. 10.1038/ng.3420
By:
- Caye, Aurélie;
- Strullu, Marion;
- Cassinat, Bruno;
- Gazal, Steven;
- Lainey, Elodie;
- Lachenaud, Julie;
- Vivent, Jocelyne;
- Verger, Emmanuelle;
- Vidaud, Dominique;
- Picard, Capucine;
- Dalle, Jean-Hugues;
- Baruchel, André;
- Chomienne, Christine;
- Cavé, Hélène;
- Guidez, Fabien;
- Méchinaud, Françoise;
- Adjaoud, Dalila;
- Paillard, Catherine;
- Nelken, Brigitte;
- Reguerre, Yves
Publication type:
Article
Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness.
Published in:
Nature Genetics, 2009, v. 41, n. 1, p. 106, doi. 10.1038/ng.278
By:
- Lagresle-Peyrou, Chantal;
- Six, Emmanuelle M.;
- Picard, Capucine;
- Rieux-Laucat, Frédéric;
- Michel, Vincent;
- Ditadi, Andrea;
- Chappedelaine, Corinne Demerens-de;
- Morillon, Estelle;
- Valensi, Françoise;
- Simon-Stoos, Karen L;
- Mullikin, James C;
- Noroski, Lenora M;
- Besse, Céline;
- Wulffraat, Nicolas M.;
- Ferster, Alina;
- Abecasis, Manuel M.;
- Calvo, Fabien;
- Petit, Christine;
- Candotti, Fabio;
- Abel, Laurent
Publication type:
Article
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
Published in:
Nature Genetics, 2008, v. 40, n. 3, p. 284, doi. 10.1038/ng.2007.66
By:
- Geneviève, David;
- Proulle, Valérie;
- Isidor, Bertrand;
- Bellais, Samuel;
- Serre, Valérie;
- Djouadi, Fatima;
- Picard, Capucine;
- Vignon-Savoye, Capucine;
- Bader-Meunier, Brigitte;
- Blanche, Stéphane;
- de Vernejoul, Marie-Christine;
- Legeai-Mallet, Laurence;
- Fischer, Anne-Marie;
- Le Merrer, Martine;
- Dreyfus, Marie;
- Gaussem, Pascale;
- Munnich, Arnold;
- Cormier-Daire, Valérie
Publication type:
Article
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Published in:
Nature Genetics, 2007, v. 39, n. 4, p. 454, doi. 10.1038/ng1993
By:
- Baala, Lekbir;
- Briault, Sylvain;
- Etchevers, Heather C;
- Laumonnier, Frédéric;
- Natiq, Abdelhafid;
- Amiel, Jeanne;
- Boddaert, Nathalie;
- Picard, Capucine;
- Sbiti, Aziza;
- Asermouh, Abdellah;
- Attié-Bitach, Tania;
- Encha-Razavi, Féréchté;
- Munnich, Arnold;
- Sefiani, Abdelaziz;
- Lyonnet, Stanislas
Publication type:
Article
Human adenoviral (HAdV) chronic arthritis expands the infectious spectrum of primary agammaglobulinemia.
Published in:
2022
By:
- de Frémont, Grégoire Martin;
- Salmona, Maud;
- Maillet, François;
- Garzaro, Margaux;
- Bertinchamp, Rémi;
- Simonnet, Arthur;
- Feghoul, Linda;
- Maki, Guitta;
- Roelens, Marie;
- Chotard, Emilie;
- Picard, Capucine;
- Oksenhendler, Eric;
- LeGoff, Jérôme;
- Boutboul, David
Publication type:
Case Study
Fulminant arterial vasculitis as an unusual complication of disseminated staphylococcal disease due to the emerging CC1 methicillin-susceptible Staphylococcus aureus clone: a case report.
Published in:
2019
By:
- Vidal, Charles;
- Moulin, Florence;
- Nassif, Xavier;
- Galmiche, Louise;
- Borgel, Delphine;
- Charbit, Alain;
- Picard, Capucine;
- Mira, Jean-Paul;
- Lortholary, Olivier;
- Jamet, Anne;
- Toubiana, Julie
Publication type:
journal article
Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.
Published in:
Annals of the New York Academy of Sciences, 2011, v. 1246, n. 1, p. 92, doi. 10.1111/j.1749-6632.2011.06273.x
By:
- Bustamante, Jacinta;
- Picard, Capucine;
- Boisson‐Dupuis, Stéphanie;
- Abel, Laurent;
- Casanova, Jean‐Laurent
Publication type:
Article
Inherited MST1 Deficiency Underlies Susceptibility to EVHPV Infections.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044010
By:
- Crequer, Amandine;
- Picard, Capucine;
- Patin, Etienne;
- D'Amico, Aurelia;
- Abhyankar, Avinash;
- Munzer, Martine;
- Debre, Marianne;
- Shen-Ying Zhang;
- de Saint-Basile, Geneviève;
- Fischer, Alain;
- Abel, Laurent;
- Orth, Gérard;
- Casanova, Jean-Laurent;
- Jouanguy, Emmanuelle;
- Wurfel, Mark M.
Publication type:
Article
ZAP70: a master regulator of adaptive immunity.
Published in:
Seminars in Immunopathology, 2010, v. 32, n. 2, p. 107, doi. 10.1007/s00281-010-0196-x
By:
- Fischer, Alain;
- Picard, Capucine;
- Chemin, Karine;
- D6ogniaux, Stéphanie;
- le Deist, Françoise;
- Hivroz, Claire
Publication type:
Article
Next generation phenotyping using narrative reports in a rare disease clinical data warehouse.
Published in:
2018
By:
- Garcelon, Nicolas;
- Neuraz, Antoine;
- Salomon, Rémi;
- Bahi-Buisson, Nadia;
- Amiel, Jeanne;
- Picard, Capucine;
- Mahlaoui, Nizar;
- Benoit, Vincent;
- Burgun, Anita;
- Rance, Bastien
Publication type:
journal article
NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.
Published in:
2021
By:
- Bardet, Juliette;
- Laverdure, Noémie;
- Fusaro, Mathieu;
- Picard, Capucine;
- Garnier, Lorna;
- Viel, Sébastien;
- Collardeau-Frachon, Sophie;
- Guillebon, Jean-Marie De;
- Durieu, Isabelle;
- Casari-Thery, Clémence;
- Mortamet, Guillaume;
- Laurent, Audrey;
- Belot, Alexandre
Publication type:
Case Study
Aspergillus fumigatus Infection in Humans With STAT3-Deficiency Is Associated With Defective Interferon-Gamma and Th17 Responses.
Published in:
Frontiers in Immunology, 2020, p. 1, doi. 10.3389/fimmu.2020.00038
By:
- Danion, François;
- Aimanianda, Vishukumar;
- Bayry, Jagadeesh;
- Duréault, Amélie;
- Wong, Sarah Sze Wah;
- Bougnoux, Marie-Elisabeth;
- Tcherakian, Colas;
- Alyanakian, Marie-Alexandra;
- Guegan, Hélène;
- Puel, Anne;
- Picard, Capucine;
- Lortholary, Olivier;
- Lanternier, Fanny;
- Latgé, Jean-Paul
Publication type:
Article
Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency.
Published in:
Frontiers in Immunology, 2019, v. 10, p. 1, doi. 10.3389/fimmu.2019.02592
By:
- El-Daher, Marie-Thérèse;
- Lemale, Julie;
- Bruneau, Julie;
- Leveau, Claire;
- Guerin, Frédéric;
- Lambert, Nathalie;
- Diana, Jean-Sébastien;
- Neven, Bénédicte;
- Sepulveda, Fernando E.;
- Coulomb-L'Hermine, Aurore;
- Molina, Thierry;
- Picard, Capucine;
- Fischer, Alain;
- de Saint Basile, Geneviève
Publication type:
Article
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
Published in:
Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01936
By:
- El Sissy, Carine;
- Rosain, Jérémie;
- Vieira-Martins, Paula;
- Bordereau, Pauline;
- Gruber, Aurélia;
- Devriese, Magali;
- de Pontual, Loïc;
- Taha, Muhamed-Kheir;
- Fieschi, Claire;
- Picard, Capucine;
- Frémeaux-Bacchi, Véronique
Publication type:
Article
Functional and structural insight into properdin control of complement alternative pathway amplification.
Published in:
EMBO Journal, 2017, v. 36, n. 8, p. 1084, doi. 10.15252/embj.201696173
By:
- Pedersen, Dennis V;
- Roumenina, Lubka;
- Jensen, Rasmus K;
- Gadeberg, Trine AF;
- Marinozzi, Chiara;
- Picard, Capucine;
- Rybkine, Tania;
- Thiel, Steffen;
- Sørensen, Uffe BS;
- Stover, Cordula;
- Fremeaux‐Bacchi, Veronique;
- Andersen, Gregers R
Publication type:
Article
Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense.
Published in:
Immunological Reviews, 2008, v. 226, n. 1, p. 29, doi. 10.1111/j.1600-065X.2008.00698.x
By:
- Shen-Ying Zhang;
- Boisson-Dupuis, Stéphanie;
- Chapgier, Ariane;
- Kun Yang;
- Bustamante, Jacinta;
- Puel, Anne;
- Picard, Capucine;
- Abel, Laurent;
- Jouanguy, Emmanuelle;
- Casanova, Jean-Laurent
Publication type:
Article
Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses.
Published in:
Immunological Reviews, 2007, v. 220, n. 1, p. 225, doi. 10.1111/j.1600-065X.2007.00564.x
By:
- Shen-Ying Zhang;
- Jouanguy, Emmanuelle;
- Sancho-Shimizu, Vanessa;
- Bernuth, Horst von;
- Kun Yang;
- Abel, Laurent;
- Picard, Capucine;
- Puel, Anne;
- Casanova, Jean-Laurent
Publication type:
Article
Inherited disorders of human Toll-like receptor signaling: immunological implications.
Published in:
Immunological Reviews, 2005, v. 203, n. 1, p. 10, doi. 10.1111/j.0105-2896.2005.00235.x
By:
- Cheng-Lung Ku;
- Kun Yang;
- Bustamante, Jacinta;
- Puel, Anne;
- Von Bernuth, Horst;
- Santos, Orchidée Filipe;
- Lawrence, Tatiana;
- Huey-Hsuan Chang;
- Al-Mousa, Hamoud;
- Picard, Capucine;
- Casanova, Jean-Laurent
Publication type:
Article
Human interferon-γ-mediated immunity is a genetically controlled continuous trait that determines the outcome of mycobacterial invasion.
Published in:
Immunological Reviews, 2000, v. 178, n. 1, p. 129, doi. 10.1034/j.1600-065x.2000.17810.x
By:
- Dupuis, Stephanie;
- Doffinger, Rainer;
- Picard, Capucine;
- Fieschi, Claire;
- Altare, Frederic;
- Jouanguy, Emmanuelle;
- Abel, Laurent;
- Casanova, Jean-Laurent
Publication type:
Article
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.
Published in:
Turkish Journal of Pediatrics, 2016, v. 58, n. 3, p. 331
By:
- Göktürk, Bahar;
- Reisli, İsmail;
- Çalışkan, Ümran;
- Oleaga-Quintas, Carmen;
- Deswarte, Caroline;
- Turul-Özgür, Tuba;
- Burgucu, Durmuş;
- Migaud, Mélanie;
- Casanova, Jean-Laurent;
- Picard, Capucine;
- Bustamante, Jacinta
Publication type:
Article
Loss of ARHGEF1 causes a human primary antibody deficiency.
Published in:
2019
By:
- Bouafia, Amine;
- Lofek, Sébastien;
- Bruneau, Julie;
- Chentout, Loïc;
- Lamrini, Hicham;
- Trinquand, Amélie;
- Deau, Marie-Céline;
- Heurtier, Lucie;
- Meignin, Véronique;
- Picard, Capucine;
- Macintyre, Elizabeth;
- Alibeu, Olivier;
- Bras, Marc;
- Molina, Thierry Jo;
- Cavazzana, Marina;
- André-Schmutz, Isabelle;
- Durandy, Anne;
- Fischer, Alain;
- Oksenhendler, Eric;
- Kracker, Sven
Publication type:
journal article
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.
Published in:
2017
By:
- Cottineau, Julien;
- Kottemann, Molly C.;
- Lach, Francis P.;
- Young-Hoon Kang;
- Vély, Frédéric;
- Deenick, Elissa K.;
- Lazarov, Tomi;
- Gineau, Laure;
- Yi Wang;
- Farina, Andrea;
- Chanse, Marie;
- Lorenzo, Lazaro;
- Piperoglou, Christelle;
- Ma, Cindy S.;
- Nitschke, Patrick;
- Belkadi, Aziz;
- Itan, Yuval;
- Boisson, Bertrand;
- Jabot-Hanin, Fabienne;
- Picard, Capucine
Publication type:
journal article
Corrigendum.
Published in:
2015
By:
- Deau, Marie-Céline;
- Heurtier, Lucie;
- Frange, Pierre;
- Suarez, Felipe;
- Bole-Feysot, Christine;
- Nitschke, Patrick;
- Cavazzana, Marina;
- Picard, Capucine;
- Durandy, Anne;
- Fischer, Alain;
- Kracker, Sven
Publication type:
Correction Notice

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