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	361.	Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. [electronic resource] by Le Goff, Carine Mahaut, Clémentine Abhyankar, Avinash Le Goff, Wilfried Serre, Valérie Afenjar, Alexandra Destrée, Anne di Rocco, Maja Héron, Delphine Jacquemont, Sébastien Marlin, Sandrine Simon, Marleen Tolmie, John Verloes, Alain Casanova, Jean-Laurent Munnich, Arnold Cormier-Daire, Valérie Producer: 20120227 In: Nature genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	362.	Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma. [electronic resource] by Youssefian, Leila Vahidnezhad, Hassan Yousefi, Mehdi Saeidian, Amir Hossein Azizpour, Arghavan Touati, Andrew Nikbakht, Neda Hesari, Kambiz Kamyab- Adib-Sereshki, Mohammad Mahdi Zeinali, Sirous Mansoori, Behzad Jazayeri, Ali Karamzadeh, Razieh Fortina, Paolo Jouanguy, Emmanuelle Casanova, Jean-Laurent Uitto, Jouni Producer: 20200804 In: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	363.	Human iPSC-derived trigeminal neurons lack constitutive TLR3-dependent immunity that protects cortical neurons from HSV-1 infection. [electronic resource] by Zimmer, Bastian Ewaleifoh, Osefame Harschnitz, Oliver Lee, Yoon-Seung Peneau, Camille McAlpine, Jessica L Liu, Becky Tchieu, Jason Steinbeck, Julius A Lafaille, Fabien Volpi, Stefano Notarangelo, Luigi D Casanova, Jean-Laurent Zhang, Shen-Ying Smith, Gregory A Studer, Lorenz Producer: 20181015 In: Proceedings of the National Academy of Sciences of the United States of America vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	364.	Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. [electronic resource] by Laffort, Caroline Le Deist, Françoise Favre, Michel Caillat-Zucman, Sophie Radford-Weiss, Isabelle Debré, Marianne Fraitag, Sylvie Blanche, Stéphane Cavazzana-Calvo, Marina de Saint Basile, Geneviève de Villartay, Jean Pierre Giliani, Silvia Orth, Gérard Casanova, Jean Laurent Bodemer, Christine Fischer, Alain Producer: 20040713 In: Lancet (London, England) vol. 363 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	365.	Whole-exome-sequencing-based discovery of human FADD deficiency. [electronic resource] by Bolze, Alexandre Byun, Minji McDonald, David Morgan, Neil V Abhyankar, Avinash Premkumar, Lakshmanane Puel, Anne Bacon, Chris M Rieux-Laucat, Frédéric Pang, Ki Britland, Alison Abel, Laurent Cant, Andrew Maher, Eamonn R Riedl, Stefan J Hambleton, Sophie Casanova, Jean-Laurent Producer: 20110118 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	366.	A novel mutation in the POLE2 gene causing combined immunodeficiency. [electronic resource] by Frugoni, Francesco Dobbs, Kerry Felgentreff, Kerstin Aldhekri, Hasan Al Saud, Bandar K Arnaout, Rand Ali, Afshan Ashraf Abhyankar, Avinash Alroqi, Fayhan Giliani, Silvia Ojeda, Mayra Martinez Tsitsikov, Erdyni Pai, Sung-Yun Casanova, Jean Laurent Notarangelo, Luigi D Manis, John P Producer: 20160630 In: The Journal of allergy and clinical immunology vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	367.	A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia. [electronic resource] by Mamoune, Asmaa Bahuau, Michel Hamel, Yamina Serre, Valérie Pelosi, Michele Habarou, Florence Nguyen Morel, Marie-Ange Boisson, Bertrand Vergnaud, Sabrina Viou, Mai Thao Nonnenmacher, Luc Piraud, Monique Nusbaum, Patrick Vamecq, Joseph Romero, Norma Ottolenghi, Chris Casanova, Jean-Laurent de Lonlay, Pascale Producer: 20151110 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	368.	Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient. [electronic resource] by Glanzmann, Brigitte Möller, Marlo Moncada-Velez, Marcela Peter, Jonny Urban, Michael van Helden, Paul D Hoal, Eileen G de Villiers, Nikola Glashoff, Richard H Nortje, Rina Bustamante, Jacinta Abel, Laurent Casanova, Jean-Laurent Boisson-Dupuis, Stephanie Esser, Monika Kinnear, Craig J Producer: 20191014 In: Journal of clinical immunology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	369.	Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency. [electronic resource] by Prando, Carolina Boisson-Dupuis, Stéphanie Grant, Audrey V Kong, Xiao-Fei Bustamante, Jacinta Feinberg, Jacqueline Chapgier, Ariane Rose, Yoann Jannière, Lucile Rizzardi, Elena Zhang, Qiuping Shanahan, Catherine M Viollet, Louis Lyonnet, Stanislas Abel, Laurent Ruga, Ezia Maria Casanova, Jean-Laurent Producer: 20100412 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	370.	Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. [electronic resource] by Grant, Audrey V Boisson-Dupuis, Stéphanie Herquelot, Eléonore de Beaucoudrey, Ludovic Filipe-Santos, Orchidée Nolan, Daniel K Feinberg, Jacqueline Boland, Anne Al-Muhsen, Saleh Sanal, Ozden Camcioglu, Yildiz Palanduz, Ayse Kilic, Sara Sebnem Bustamante, Jacinta Casanova, Jean-Laurent Abel, Laurent Producer: 20111118 In: Journal of medical genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	371.	Human blood IgM "memory" B cells are circulating splenic marginal zone B cells harboring a prediversified immunoglobulin repertoire. [electronic resource] by Weller, Sandra Braun, Moritz C Tan, Bruce K Rosenwald, Andreas Cordier, Corinne Conley, Mary Ellen Plebani, Alessandro Kumararatne, Dinakhanta S Bonnet, Damien Tournilhac, Olivier Tchernia, Gil Steiniger, Birte Staudt, Louis M Casanova, Jean-Laurent Reynaud, Claude-Agnès Weill, Jean-Claude Producer: 20041230 In: Blood vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	372.	Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. [electronic resource] by Pessach, Itai M Ordovas-Montanes, Jose Zhang, Shen-Ying Casanova, Jean-Laurent Giliani, Silvia Gennery, Andrew R Al-Herz, Waleed Manos, Philip D Schlaeger, Thorsten M Park, In-Hyun Rucci, Francesca Agarwal, Suneet Mostoslavsky, Gustavo Daley, George Q Notarangelo, Luigi D Producer: 20110812 In: The Journal of allergy and clinical immunology vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	373.	Identification of a major locus, TNF1, that controls BCG-triggered tumor necrosis factor production by leukocytes in an area hyperendemic for tuberculosis. [electronic resource] by Cobat, Aurelie Hoal, Eileen G Gallant, Caroline J Simkin, Leah Black, Gillian F Stanley, Kim Jaïs, Jean-Philippe Yu, Ting-Heng Boland-Auge, Anne Grange, Ghislain Delacourt, Christophe van Helden, Paul Casanova, Jean-Laurent Abel, Laurent Alcaïs, Alexandre Schurr, Erwin Producer: 20140617 In: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	374.	Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. [electronic resource] by Koss, Matthew Bolze, Alexandre Brendolan, Andrea Saggese, Matilde Capellini, Terence D Bojilova, Ekaterina Boisson, Bertrand Prall, Owen W J Elliott, David A Solloway, Mark Lenti, Elisa Hidaka, Chisa Chang, Ching-Pin Mahlaoui, Nizar Harvey, Richard P Casanova, Jean-Laurent Selleri, Licia Producer: 20120730 In: Developmental cell vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	375.	New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein. [electronic resource] by Hubeau, Marjorie Ngadjeua, Flora Puel, Anne Israel, Laura Feinberg, Jacqueline Chrabieh, Maya Belani, Kiran Bodemer, Christine Fabre, Isabelle Plebani, Alessandro Boisson-Dupuis, Stéphanie Picard, Capucine Fischer, Alain Israel, Alain Abel, Laurent Veron, Michel Casanova, Jean-Laurent Agou, Fabrice Bustamante, Jacinta Producer: 20111014 In: Blood vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	376.	New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. [electronic resource] by Soltész, Beáta Tóth, Beáta Shabashova, Nadejda Bondarenko, Anastasia Okada, Satoshi Cypowyj, Sophie Abhyankar, Avinash Csorba, Gabriella Taskó, Szilvia Sarkadi, Adrien Katalin Méhes, Leonóra Rozsíval, Pavel Neumann, David Chernyshova, Liudmyla Tulassay, Zsolt Puel, Anne Casanova, Jean-Laurent Sediva, Anna Litzman, Jiri Maródi, László Producer: 20140508 In: Journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	377.	Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease. [electronic resource] by Nekooie-Marnany, Nioosha Deswarte, Caroline Ostadi, Vajiheh Bagherpour, Bahram Taleby, Elaheh Ganjalikhani-Hakemi, Mazdak Le Voyer, Tom Rahimi, Hamid Rosain, Jérémie Pourmoghadas, Zahra Sheikhbahaei, Saba Khoshnevisan, Razieh Petersheim, Daniel Kotlarz, Daniel Klein, Christoph Boisson-Dupuis, Stéphanie Casanova, Jean-Laurent Bustamante, Jacinta Sherkat, Roya Producer: 20191015 In: Journal of clinical immunology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	378.	Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. [electronic resource] 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 Producer: 20120430 In: The Journal of clinical investigation vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	379.	Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis. [electronic resource] by Belkaya, Serkan Kontorovich, Amy R Byun, Minji Mulero-Navarro, Sonia Bajolle, Fanny Cobat, Aurelie Josowitz, Rebecca Itan, Yuval Quint, Raphaelle Lorenzo, Lazaro Boucherit, Soraya Stoven, Cecile Di Filippo, Sylvie Abel, Laurent Zhang, Shen-Ying Bonnet, Damien Gelb, Bruce D Casanova, Jean-Laurent Producer: 20170710 In: Journal of the American College of Cardiology vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	380.	Lack of interaction between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation and leads to incontinentia pigmenti. [electronic resource] by Bal, Elodie Laplantine, Emmanuel Hamel, Yamina Dubosclard, Virginie Boisson, Bertrand Pescatore, Alessandra Picard, Capucine Hadj-Rabia, Smaïl Royer, Ghislaine Steffann, Julie Bonnefont, Jean-Paul Ursini, Valeria M Vabres, Pierre Munnich, Arnold Casanova, Jean-Laurent Bodemer, Christine Weil, Robert Agou, Fabrice Smahi, Asma Producer: 20171226 In: The Journal of allergy and clinical immunology vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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