Motor protein mutations cause a new form of hereditary spastic paraplegia
Caballero Oteyza, Andrés, Battaloğlu, Esra, Ocek, Levent, Lindig, Tobias, Reichbauer, Jennifer, Rebelo, Adriana P, Gonzalez, Michael A, Zorlu, Yasar, Ozes, Burcak, Timmann, Dagmar, Bender, Benjamin, Woehlke, Günther, Züchner, Stephan, Schöls, Ludger, Schüle, Rebecca
Published in Neurology (03.06.2014)
Published in Neurology (03.06.2014)
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Journal Article
ARPC5 deficiency leads to severe early onset systemic inflammation and mortality
Sindram, Elena, Caballero-Oteyza, Andrés, Kogata, Naoko, Huang, Shaina, Alizadeh, Zahra, Gamez-Díaz, Laura, Fazlollahi, Mohammad Reza, Peng, Xiao, Grimbacher, Bodo, Way, Michael, Proietti, Michele
Published in Disease models & mechanisms (01.07.2023)
Published in Disease models & mechanisms (01.07.2023)
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Journal Article
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
Gonzalez, Michael, Nampoothiri, Sheela, Kornblum, Cornelia, Oteyza, Andrés Caballero, Walter, Jochen, Konidari, Ioanna, Hulme, William, Speziani, Fiorella, Schöls, Ludger, Züchner, Stephan, Schüle, Rebecca
Published in European journal of human genetics : EJHG (01.11.2013)
Published in European journal of human genetics : EJHG (01.11.2013)
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Journal Article
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Martin, Elodie, Schüle, Rebecca, Smets, Katrien, Rastetter, Agnès, Boukhris, Amir, Loureiro, José L., Gonzalez, Michael A., Mundwiller, Emeline, Deconinck, Tine, Wessner, Marc, Jornea, Ludmila, Oteyza, Andrés Caballero, Durr, Alexandra, Martin, Jean-Jacques, Schöls, Ludger, Mhiri, Chokri, Lamari, Foudil, Züchner, Stephan, De Jonghe, Peter, Kabashi, Edor, Brice, Alexis, Stevanin, Giovanni
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Journal Article
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study
Rojas-Restrepo, Jessica, Caballero-Oteyza, Andrés, Huebscher, Katrin, Haberstroh, Hanna, Fliegauf, Manfred, Keller, Baerbel, Kobbe, Robin, Warnatz, Klaus, Ehl, Stephan, Proietti, Michele, Grimbacher, Bodo
Published in Frontiers in immunology (17.12.2021)
Published in Frontiers in immunology (17.12.2021)
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Journal Article
Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1
Kury, Patrick, Staniek, Julian, Wegehaupt, Oliver, Janowska, Iga, Eckenweiler, Matthias, Korinthenberg, Rudolf, Japaridze, Natia, Pendziwiat, Manuela, Helbig, Ingo, Verhoeyen, Els, Jung, Johannes, Garcia de Oteyza, Andres Caballero, Proietti, Michele, Phirtskhalaishvili, Tamar, Rtskhiladze, Irakli, Nielsen, Peter J., Ehl, Stephan, Speckmann, Carsten, Rizzi, Marta
Published in Journal of allergy and clinical immunology (01.05.2021)
Published in Journal of allergy and clinical immunology (01.05.2021)
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Journal Article
Common Variable Immunodeficiency: More Pathways than Roads to Rome
Peng, Xiao P, Caballero-Oteyza, Andrés, Grimbacher, Bodo
Published in Annual review of pathology (24.01.2023)
Published in Annual review of pathology (24.01.2023)
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Journal Article
OTULIN-related conditions: Report of a new case and review of the literature using GenIA
Caballero-Oteyza, Andrés, Crisponi, Laura, Peng, Xiao P., Wang, Hongying, Mrovecova, Pavla, Olla, Stefania, Siguri, Chiara, Marnissi, Farida, Jouhadi, Zineb, Aksentijevich, Ivona, Grimbacher, Bodo, Proietti, Michele
Published in Clinical immunology (Orlando, Fla.) (01.08.2024)
Published in Clinical immunology (Orlando, Fla.) (01.08.2024)
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Journal Article
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)
Schubert, Desirée, Klein, Marie-Christine, Hassdenteufel, Sarah, Caballero-Oteyza, Andrés, Yang, Linlin, Proietti, Michele, Bulashevska, Alla, Kemming, Janine, Kühn, Johannes, Winzer, Sandra, Rusch, Stephan, Fliegauf, Manfred, Schäffer, Alejandro A., Pfeffer, Stefan, Geiger, Roger, Cavalié, Adolfo, Cao, Hongzhi, Yang, Fang, Li, Yong, Rizzi, Marta, Eibel, Hermann, Kobbe, Robin, Marks, Amy L., Peppers, Brian P., Hostoffer, Robert W., Puck, Jennifer M., Zimmermann, Richard, Grimbacher, Bodo
Published in Journal of allergy and clinical immunology (01.04.2018)
Published in Journal of allergy and clinical immunology (01.04.2018)
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Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants
Hargreaves, Chantal E., Dhalla, Fatima, Patel, Arzoo M., de Oteyza, Andrés Caballero Garcia, Bateman, Elizabeth, Miller, Joanne, Anzilotti, Consuelo, Ayers, Lisa, Grimbacher, Bodo, Patel, Smita Y.
Published in Clinical immunology (Orlando, Fla.) (01.01.2022)
Published in Clinical immunology (Orlando, Fla.) (01.01.2022)
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Journal Article
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
Wan, Rensheng, Schieck, Maximilian, Caballero-Oteyza, Andrés, Hofmann, Winfried, Cochino, Alexis Virgil, Shcherbina, Anna, Sherkat, Roya, Wache-Mainier, Clarisse, Fernandez, Anita, Sultan, Marc, Illig, Thomas, Grimbacher, Bodo, Proietti, Michele, Steinemann, Doris
Published in Journal of clinical immunology (01.07.2022)
Published in Journal of clinical immunology (01.07.2022)
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Journal Article
Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing
Alizadeh, Zahra, Fazlollahi, Mohammad Reza, Mazinani, Marzieh, Badalzadeh, Mohsen, Heydarlou, Hanieh, Carapito, Raphael, Molitor, Anne, de Oteyza, Andrés Caballero Garcia, Proietti, Michele, Bavani, Maryam Soleimani, Shariat, Mansoureh, Fallahpour, Morteza, Movahedi, Masoud, Moradi, Leila, Grimbacher, Bodo, Bahram, Seiamak, Pourpak, Zahra
Published in Genes and immunity (01.08.2023)
Published in Genes and immunity (01.08.2023)
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Journal Article
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
Staus, Paulina, Rusch, Stephan, El-Helou, Sabine, Müller, Gabriele, Krausz, Máté, Geisen, Ulf, Caballero-Oteyza, Andrés, Krüger, Renate, Bakhtiar, Shahrzad, Lee-Kirsch, Min Ae, Fasshauer, Maria, Baumann, Ulrich, Hoyer, Bimba Franziska, Farela Neves, João, Borte, Michael, Carrabba, Maria, Hauck, Fabian, Ehl, Stephan, Bader, Peter, von Bernuth, Horst, Atschekzei, Faranaz, Seppänen, Mikko R. J., Warnatz, Klaus, Nieters, Alexandra, Kindle, Gerhard, Grimbacher, Bodo
Published in Journal of clinical immunology (01.08.2023)
Published in Journal of clinical immunology (01.08.2023)
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Journal Article
Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency
Magg, Thomas, Okano, Tsubasa, Koenig, Lars M, Boehmer, Daniel F R, Schwartz, Samantha L, Inoue, Kento, Heimall, Jennifer, Licciardi, Francesco, Ley-Zaporozhan, Julia, Ferdman, Ronald M, Caballero-Oteyza, Andrés, Park, Esther N, Calderon, Brenda M, Dey, Debayan, Kanegane, Hirokazu, Cho, Kazutoshi, Montin, Davide, Reiter, Karl, Griese, Matthias, Albert, Michael H, Rohlfs, Meino, Gray, Paul, Walz, Christoph, Conn, Graeme L, Sullivan, Kathleen E, Klein, Christoph, Morio, Tomohiro, Hauck, Fabian
Published in Science immunology (18.06.2021)
Published in Science immunology (18.06.2021)
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Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation
Wehr, Claudia, Houet, Leonora, Unger, Susanne, Kindle, Gerhard, Goldacker, Sigune, Grimbacher, Bodo, Caballero Garcia de Oteyza, Andrés, Marks, Reinhard, Pfeifer, Dietmar, Nieters, Alexandra, Proietti, Michele, Warnatz, Klaus, Schmitt-Graeff, Annette
Published in Journal of clinical immunology (01.08.2021)
Published in Journal of clinical immunology (01.08.2021)
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Journal Article
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis
Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andrés, Buchta, Mary, Hübscher, Katrin, Gámez-Díaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra, Soler-Palacin, Pere, Galal, Nermeen, Adeli, Mehdi, Aldave-Becerra, Juan Carlos, Al-Ddafari, Moudjahed Saleh, Ardenyz, Ömür, Atkinson, T. Prescott, Kut, Fulya Bektas, Çelmeli, Fatih, Rees, Helen, Kilic, Sara S., Kirovski, Ilija, Klein, Christoph, Kobbe, Robin, Korganow, Anne-Sophie, Lilic, Desa, Lunt, Peter, Makwana, Niten, Metin, Ayse, Özgür, Tuba Turul, Karakas, Ayse Akman, Seneviratne, Suranjith, Sherkat, Roya, Sousa, Ana Berta, Unal, Ekrem, Patiroglu, Turkan, Wahn, Volker, von Bernuth, Horst, Whiteford, Margo, Doffinger, Rainer, Jouhadi, Zineb, Grimbacher, Bodo
Published in Journal of clinical immunology (01.11.2021)
Published in Journal of clinical immunology (01.11.2021)
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Journal Article
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity
Caballero-Oteyza, Andrés, Crisponi, Laura, Peng, Xiao P., Yauy, Kevin, Volpi, Stefano, Giardino, Stefano, Freeman, Alexandra F., Grimbacher, Bodo, Proietti, Michele
Published in Journal of allergy and clinical immunology (01.03.2024)
Published in Journal of allergy and clinical immunology (01.03.2024)
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Journal Article
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
Boukhris, Amir, Schule, Rebecca, Loureiro, José L., Lourenço, Charles Marques, Mundwiller, Emeline, Gonzalez, Michael A., Charles, Perrine, Gauthier, Julie, Rekik, Imen, Acosta Lebrigio, Rafael F., Gaussen, Marion, Speziani, Fiorella, Ferbert, Andreas, Feki, Imed, Caballero-Oteyza, Andrés, Dionne-Laporte, Alexandre, Amri, Mohamed, Noreau, Anne, Forlani, Sylvie, Cruz, Vitor T., Mochel, Fanny, Coutinho, Paula, Dion, Patrick, Mhiri, Chokri, Schols, Ludger, Pouget, Jean, Darios, Frédéric, Rouleau, Guy A., Marques, Wilson, Brice, Alexis, Durr, Alexandra, Zuchner, Stephan, Stevanin, Giovanni
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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