IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases von Tauber, Marie, Bal, Elodie, Pei, Xue-Yuan, Madrange, Marine, Khelil, Amel, Sahel, Houria, Zenati, Akila, Makrelouf, Mohamed, Boubridaa, Khaled, Chiali, Amel, Smahi, Naima, Otsmane, Farida, Bouajar, Bakar, Marrakchi, Slaheddine, Turki, Hamida, Bourrat, Emmanuelle, Viguier, Manuelle, Hamel, Yamina, Bachelez, Hervé, Smahi, Asma

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Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations von Pelosi, Michele, Testet, Eric, Le Lay, Soazig, Dugail, Isabelle, Tang, Xiaoyun, Mabilleau, Guillaume, Hamel, Yamina, Madrange, Marine, Blanc, Thomas, Odent, Thierry, McMullen, Todd P.W., Alfò, Marco, Brindley, David N., de Lonlay, Pascale

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PRIMA-1MET/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells von Berthy, Clément, Gagnoux-Palacios, Laurent, Madrange, Marine, Bodemer, Christine, Cagnard, Nicolas, Hadj-Rabia, Smail, Petit, Isabelle, Aberdam, Daniel

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Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa von Assan, Florence, Gottlieb, Jeremy, Tubach, Florence, Lebbah, Said, Guigue, Nicolas, Hickman, Geoffroy, Pape, Emeline, Madrange, Marine, Delaporte, Emmanuel, Sendid, Boualem, Aubin, François, Derouin, Francis, Bretagne, Stéphane, Richette, Pascal, Smahi, Asma, Sbidian, Emilie, Bachelez, Hervé

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Redefining tryptase norms in the pediatric population reveals sex‐based differences: Clinical implications von Puel, Mathilde, Rossignol, Julien, Devin, Clotilde, Madrange, Marine, Diep, Antoine, Roland, Pascale Nicaise, Chollet‐Martin, Sylvie, Husson, Julien, Hermine, Olivier, Bodemer, Christine, Brouzes, Chantal, De Chaisemartin, Luc, Polivka, Laura

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Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect von Bérat, Claire‐Marine, Montealegre, Sebastian, Wiedemann, Arnaud, Nuzum, Malou Le Corronc, Blondel, Amélie, Debruge, Hugo, Cano, Aline, Chabrol, Brigitte, Hoebeke, Célia, Polak, Michel, Stoupa, Athanasia, Feillet, François, Torre, Stéphanie, Boddaert, Nathalie, Bruel, Henri, Barth, Magalie, Damaj, Lena, Abi‐Wardé, Marie‐Thérèse, Afenjar, Alexandra, Benoist, Jean‐François, Madrange, Marine, Caccavelli, Laure, Renard, Perrine, Hubas, Arnaud, Nusbaum, Patrick, Pontoizeau, Clément, Gobin, Stéphanie, Endert, Peter, Ottolenghi, Chris, Maltret, Alice, Lonlay, Pascale

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Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas von Bal, Elodie, Park, Hyun-Sook, Belaid-Choucair, Zakia, Kayserili, Hülya, Naville, Magali, Madrange, Marine, Chiticariu, Elena, Hadj-Rabia, Smail, Cagnard, Nicolas, Kuonen, Francois, Bachmann, Daniel, Huber, Marcel, Le Gall, Cindy, Côté, Francine, Hanein, Sylvain, Rosti, Rasim Özgür, Aslanger, Ayca Dilruba, Waisfisz, Quinten, Bodemer, Christine, Hermine, Olivier, Morice-Picard, Fanny, Labeille, Bruno, Caux, Frédéric, Mazereeuw-Hautier, Juliette, Philip, Nicole, Levy, Nicolas, Taieb, Alain, Avril, Marie-Françoise, Headon, Denis J, Gyapay, Gabor, Magnaldo, Thierry, Fraitag, Sylvie, Crollius, Hugues Roest, Vabres, Pierre, Hohl, Daniel, Munnich, Arnold, Smahi, Asma

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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy von Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale

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Author Correction: Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas von Bal, Elodie, Park, Hyun-Sook, Belaid-Choucair, Zakia, Kayserili, Hülya, Naville, Magali, Madrange, Marine, Chiticariu, Elena, Hadj-Rabia, Smail, Cagnard, Nicolas, Kuonen, Francois, Bachmann, Daniel, Huber, Marcel, Le Gall, Cindy, Côté, Francine, Hanein, Sylvain, Rosti, Rasim Özgür, Aslanger, Ayca Dilruba, Waisfisz, Quinten, Bodemer, Christine, Hermine, Olivier, Morice-Picard, Fanny, Labeille, Bruno, Caux, Frédéric, Mazereeuw-Hautier, Juliette, Philip, Nicole, Levy, Nicolas, Taieb, Alain, Avril, Marie-Françoise, Headon, Denis J, Gyapay, Gabor, Magnaldo, Thierry, Fraitag, Sylvie, Crollius, Hugues Roest, Vabres, Pierre, Hohl, Daniel, Munnich, Arnold, Smahi, Asma

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Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes von Polivka, Laura, Madrange, Marine, Bulai-Livideanu, Cristina, Barete, Stéphane, Ballul, Thomas, Neuraz, Antoine, Greco, Celine, Agopian, Julie, Brenet, Fabienne, Dubreuil, Patrice, Burdet, Charles, Lemal, Richard, Tournilhac, Olivier, Terriou, Louis, Launay, David, Bouillet, Laurence, Gourguechon, Clément, Damaj, Ghandi, Frenzel, Laurent, Meni, Cécile, Bouktit, Hassiba, Collange, Anne Florence, Gaudy-Marqueste, Caroline, Gousseff, Marie, Le Mouel, Edwige, Hamidou, Mohamed, Neel, Antoine, Ranta, Dana, Jaussaud, Roland, Guilpain, Philippe, Canioni, Danielle, Molina, Thierry Jo, Bruneau, Julie, Lhermitte, Ludovic, Garcelon, Nicolas, Javier, Rose-Marie, Pelletier, Fabien, Castelain, Florence, Retornaz, Frederique, Cabrera, Quentin, Zunic, Patricia, Gourin, Marie Pierre, Wierzbicka-Hainaut, Ewa, Viallard, Jean François, Lavigne, Christian, Hoarau, Cyrille, Durieu, Isabelle, Heiblig, Maël, Dimicoli-Salazar, Sophie, Torregrosa-Diaz, Jose Miguel, Soria, Angèle, Arock, Michel, Lortholary, Olivier, Bodemer, Christine, Hermine, Olivier, Rossignol, Julien

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Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis von Cabrera-Serrano, Macarena, Caccavelli, Laure, Savarese, Marco, Vihola, Anna, Jokela, Manu, Johari, Mridul, Capiod, Thierry, Madrange, Marine, Bugiardini, Enrico, Brady, Stefen, Quinlivan, Rosaline, Merve, Ashirwad, Scalco, Renata, Hilton-Jones, David, Houlden, Henry, Ibrahim Aydin, Halil, Ceylaner, Serdar, Vockley, Jerry, Taylor, Rhonda L, Folland, Chiara, Kelly, Aasta, Goullee, Hayley, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna, Udd, Bjarne, Forrest, Alistair R R, Davis, Mark R, Bratkovic, Drago, Manton, Nicholas, Robertson, Thomas, McCombe, Pamela, Laing, Nigel G, Phillips, Liza, de Lonlay, Pascale, Ravenscroft, Gianina

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Mutation in IL36RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome von Bal, Elodie, Lim, Ai Ching, Shen, Min, Douangpanya, Jason, Madrange, Marine, Gazah, Rihab, Tauber, Marie, Beghdadi, Walid, Casanova, Jean Laurent, Bourrat, Emmanuelle, Bachelez, Hervé, Towne, Jennifer E., Smahi, Asma

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PRIMA-1 MET /APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells von Berthy, Clément, Gagnoux-Palacios, Laurent, Madrange, Marine, Bodemer, Christine, Cagnard, Nicolas, Hadj-Rabia, Smail, Petit, Isabelle, Aberdam, Daniel

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Epithelial barrier dysfunction in desmoglein-1 deficiency von Polivka, Laura, Hadj-Rabia, Smail, Bal, Elodie, Leclerc-Mercier, Stéphanie, Madrange, Marine, Hamel, Yamina, Bonnet, Damien, Mallet, Stéphanie, Lepidi, Hubert, Ovaert, Caroline, Barbet, Patrick, Dupont, Christophe, Neven, Bénédicte, Munnich, Arnold, Godsel, Lisa M., Campeotto, Florence, Weil, Robert, Laplantine, Emmanuel, Marchetto, Sylvie, Borg, Jean-Paul, Weis, William I., Casanova, Jean-Laurent, Puel, Anne, Green, Kathleen J., Bodemer, Christine, Smahi, Asma

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Cardiac function and exercise adaptation in 8 children with LPIN1 mutations von Legendre, Antoine, Khraiche, Diala, Ou, Phalla, Mauvais, François-Xavier, Madrange, Marine, Guemann, Anne-Sophie, Jais, Jean-Philippe, Bonnet, Damien, Hamel, Yamina, de Lonlay, Pascale

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Mutation in IL 36 RN impairs the processing and regulatory function of the interleukin‐36‐receptor antagonist and is associated with DITRA syndrome von Bal, Elodie, Lim, Ai Ching, Shen, Min, Douangpanya, Jason, Madrange, Marine, Gazah, Rihab, Tauber, Marie, Beghdadi, Walid, Casanova, Jean Laurent, Bourrat, Emmanuelle, Bachelez, Hervé, Towne, Jennifer E., Smahi, Asma

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Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis von Hamel, Yamina, Mauvais, François-Xavier, Madrange, Marine, Renard, Perrine, Lebreton, Corinne, Nemazanyy, Ivan, Pellé, Olivier, Goudin, Nicolas, Tang, Xiaoyun, Rodero, Mathieu P., Tuchmann-Durand, Caroline, Nusbaum, Patrick, Brindley, David N., van Endert, Peter, de Lonlay, Pascale

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Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specified von Ballul, Thomas, Sabato, Vito, Valent, Peter, Hermine, Olivier, Lortholary, Olivier, Rossignol, Julien, Ballul, Thomas, Sabato, Vito, Livideanu, Cristina Bulai, Neuraz, Antoine, Agopian, Julie, Brenet, Fabienne, Dubreuil, Patrice, Ebo, Didier G., Beyens, Michiel, Lemal, Richard, Tournilhac, Olivier, Terriou, Louis, Launay, David, Bouillet, Laurence, Chatain, Catharina, Gourguechon, Clément, Damaj, Gandhi, Durupt, Stéphane, Greco, Celine, Frenzel, Laurent, Bodemer-Skandalis, Christine, Polivka, Laura, Madrange, Marine, Meni, Cécile, Bouktit, Hassiba, Bellais, Anne Florence, Durand, Jean-Marc, Gousseff, Marie, Le Mouel, Edwige, Hamidou, Mohamed, Neel, Antoine, Ranta, Dana, Niault, Mathilde, Schiffmann, Aurélie, Barete, Stéphane, Arock, Michel, Canioni, Danielle, Molina, Thierry Jo, Bruneau, Julie, Vaes, Mélanie, Havelange, Violaine, Faour, Hassan, Garcelon, Nicolas, Javier, Rose-Marie, Pelletier, Fabien, Castelain, Florence, Vincent, Denis, Retornaz, Frédérique, Cabrera, Quentin, Zunic, Patricia, Guilpain, Philippe, Gourin, Marie Pierre, Wierzbicka–Hainaut, Ewa, Viallard, Jean François, Lavigne, Christian, Hoarau, Cyrille, Lhermitte, Ludovic, Heiblig, Maël, Jaussaud, Roland, Valent, Peter, Hermine, Olivier, Lortholary, Olivier, Rossignol, Julien

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Characterization of patients with clonal mast cells in the bone marrow with clinical significance not otherwise specifiedResearch in context von Thomas Ballul, Vito Sabato, Peter Valent, Olivier Hermine, Olivier Lortholary, Julien Rossignol, Thomas Ballul, Vito Sabato, Cristina Bulai Livideanu, Antoine Neuraz, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Didier G. Ebo, Michiel Beyens, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Catharina Chatain, Clément Gourguechon, Gandhi Damaj, Stéphane Durupt, Celine Greco, Laurent Frenzel, Christine Bodemer-Skandalis, Laura Polivka, Marine Madrange, Cécile Meni, Hassiba Bouktit, Anne Florence Bellais, Jean-Marc Durand, Marie Gousseff, Edwige Le Mouel, Mohamed Hamidou, Antoine Neel, Dana Ranta, Mathilde Niault, Aurélie Schiffmann, Stéphane Barete, Michel Arock, Danielle Canioni, Thierry Jo Molina, Julie Bruneau, Mélanie Vaes, Violaine Havelange, Hassan Faour, Nicolas Garcelon, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Denis Vincent, Frédérique Retornaz, Quentin Cabrera, Patricia Zunic, Philippe Guilpain, Marie Pierre Gourin, Ewa Wierzbicka–Hainaut, Jean François Viallard, Christian Lavigne, Cyrille Hoarau, Ludovic Lhermitte, Maël Heiblig, Roland Jaussaud, Peter Valent, Olivier Hermine, Olivier Lortholary, Julien Rossignol

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Methods for determining whether a patient suffering from rhabdomyolysis achieves a response with a TLR9 antagonist von Van Endert, Peter, Hamel, Yamina, Mauvais, François-Xavier, De Lonlay-Debeney, Pascale, Madrange, Marine

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