Immune checkpoint deficiencies and autoimmune lymphoproliferative syndromes von Gámez-Díaz, Laura, Grimbacher, Bodo

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The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency von Gámez-Díaz, Laura, MSc, August, Dietrich, cand. MD, Stepensky, Polina, MD, Revel-Vilk, Shoshana, MD, MSc, Seidel, Markus G., MD, Noriko, Mitsuiki, MD, Morio, Tomohiro, MD, PhD, Worth, Austen J.J., MD, PhD, Blessing, Jacob, MD, PhD, Van de Veerdonk, Frank, MD, PhD, Feuchtinger, Tobias, MD, Kanariou, Maria, MD, PhD, Schmitt-Graeff, Annette, MD, Jung, Sophie, DD, PhD, Seneviratne, Suranjith, MD, PhD, Burns, Siobhan, MD, Belohradsky, Bernd H., MD, Rezaei, Nima, MD, PhD, Bakhtiar, Shahrzad, MD, Speckmann, Carsten, MD, Jordan, Michael, MD, Grimbacher, Bodo, MD

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"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology von Jung, Sophie, Gámez-Díaz, Laura, Proietti, Michele, Grimbacher, Bodo

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Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation von Seidel, Markus G., MD, Böhm, Katrin, Cm, Dogu, Figen, MD, Worth, Austen, MD, Thrasher, Adrian, MD, Florkin, Benoit, MD, İkincioğulları, Aydan, MD, Peters, Anke, MD, Bakhtiar, Shahrzad, MD, Meeths, Marie, MD, Stepensky, Polina, MD, Meyts, Isabelle, MD, Sharapova, Svetlana O., MD, Gámez-Díaz, Laura, PhD, Hammarström, Lennart, MD, Ehl, Stephan, MD, Grimbacher, Bodo, MD, Gennery, Andrew R., MD

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Different Apples, Same Tree: Visualizing Current Biological and Clinical Insights into CTLA-4 Insufficiency and LRBA and DEF6 Deficiencies von Gámez-Díaz, Laura, Seidel, Markus G

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Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency von Seidel, Markus G., MD, Hirschmugl, Tatjana, MSc, Gamez-Diaz, Laura, MSc, Schwinger, Wolfgang, MD, Serwas, Nina, PhD, Deutschmann, Andrea, MD, Gorkiewicz, Gregor, MD, Zenz, Werner, MD, Windpassinger, Christian, MD, Grimbacher, Bodo, MD, Urban, Christian, MD, Boztug, Kaan, MD

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Do common infections trigger disease-onset or -severity in CTLA-4 insufficiency? von Krausz, Máté, Mitsuiki, Noriko, Falcone, Valeria, Komp, Johanna, Posadas-Cantera, Sara, Lorenz, Hanns-Martin, Litzman, Jiri, Wolff, Daniel, Kanariou, Maria, Heinkele, Anita, Speckmann, Carsten, Häcker, Georg, Hengel, Hartmut, Gámez-Díaz, Laura, Grimbacher, Bodo

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Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype von Serwas, Nina Kathrin, Kansu, Aydan, Santos-Valente, Elisangela, Kuloğlu, Zarife, Demir, Arzu, Yaman, Aytaç, Gamez Diaz, Laura Yaneth, Artan, Reha, Sayar, Ersin, Ensari, Arzu, Grimbacher, Bodo, Boztug, Kaan

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Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation von Schreiner, Felix, Plamper, Michaela, Dueker, Gesche, Schoenberger, Stefan, Gámez-Díaz, Laura, Grimbacher, Bodo, Hilger, Alina C, Gohlke, Bettina, Reutter, Heiko, Woelfle, Joachim

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FIP200 Phosphorylation Regulates Late Steps in Mitophagy von Eickhorst, Christopher, Babic, Riccardo, Rush-Kittle, Jorrell, Lucya, Leon, Imam, Fatimah Lami, Sánchez-Martín, Pablo, Hollenstein, David M., Michaelis, Jonas, Münch, Christian, Meisinger, Chris, Slade, Dea, Gámez-Díaz, Laura, Kraft, Claudine

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Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review von Habibi, Sima, Zaki-Dizaji, Majid, Rafiemanesh, Hosein, Lo, Bernice, Jamee, Mahnaz, Gámez-Díaz, Laura, Salami, Fereshte, Kamali, Ali N., Mohammadi, Hamed, Abolhassani, Hassan, Yazdani, Reza, Aghamohammadi, Asghar, Anaya, Juan-Manuel, Azizi, Gholamreza

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Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4-Dependent Transendocytosis by Flow Cytometry von Rojas-Restrepo, Jessica, Sindram, Elena, Zenke, Simon, Haberstroh, Hanna, Mitsuiki, Noriko, Gabrysch, Annemarie, Huebscher, Katrin, Posadas-Cantera, Sara, Krausz, Máté, Kobbe, Robin, Rohr, Jan C., Grimbacher, Bodo, Gámez-Díaz, Laura

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Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation von Revel-Vilk, Shoshana, Fischer, Ute, Keller, Bärbel, Nabhani, Schafiq, Gámez-Díaz, Laura, Rensing-Ehl, Anne, Gombert, Michael, Hönscheid, Andrea, Saleh, Hani, Shaag, Avraham, Borkhardt, Arndt, Grimbacher, Bodo, Warnatz, Klaus, Elpeleg, Orly, Stepensky, Polina

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Correction to: Functional Relevance of CTLA4 Variants: an Upgraded Approach to Assess CTLA4‑Dependent Transendocytosis by Flow Cytometry von Rojas‑Restrepo, Jessica, Sindram, Elena, Zenke, Simon, Haberstroh, Hanna, Mitsuiki, Noriko, Gabrysch, Annemarie, Huebscher, Katrin, Posadas‑Cantera, Sara, Krausz, Máté, Kobbe, Robin, Rohr, Jan C., Grimbacher, Bodo, Gamez‑Diaz, Laura

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Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis von 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

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Treatment of Infantile Inflammatory Bowel Disease and Autoimmunity by Allogeneic Stem Cell Transplantation in LPS-Responsive Beige-Like Anchor Deficiency von Bakhtiar, Shahrzad, Gámez-Díaz, Laura, Jarisch, Andrea, Soerensen, Jan, Grimbacher, Bodo, Belohradsky, Bernd, Keller, Klaus-Michael, Rietschel, Christoph, Klingebiel, Thomas, Koletzko, Sibylle, Albert, Michael H, Bader, Peter

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Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family von Sharapova, Svetlana O., Haapaniemi, Emma, Sakovich, Inga S., Rojas, Jessica, Gámez-Díaz, Laura, Mareika, Yuliya E., Guryanova, Irina E., Migas, Alexandr A., Mikhaleuskaya, Taisiya M., Grimbacher, Bodo, Aleinikova, Olga V.

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Case Report: Refractory Autoimmune Gastritis Responsive to Abatacept in LRBA Deficiency von Boz, Valentina, Valencic, Erica, Girardelli, Martina, Pin, Alessia, Gàmez-Diaz, Laura, Tommasini, Alberto, Lega, Sara, Bramuzzo, Matteo

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Inborn errors of immunity associated with defects of self‐tolerance checkpoints: The CD28 family von Rush‐Kittle, Jorrell, Gámez‐Díaz, Laura, Grimbacher, Bodo

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ARPC5 deficiency leads to severe early-onset systemic inflammation and mortality von Sindram, Elena, Caballero-Oteyza, Andrés, Kogata, Naoko, Chor Mei Huang, Shaina, Alizadeh, Zahra, Gámez-Díaz, Laura, Fazlollhi, Mohammad Reza, Peng, Xiao, Grimbacher, Bodo, Way, Michael, Proietti, Michele

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