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Raul Jimenez Heredia
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Journal Articles

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

Jana Block, Christina Rashkova, Irinka Castanon, Jessica Platon, Samaneh Zoghi, Mitsuhiro Fujiwara, Beatriz Chaves, Rouven Schoppmeyer, Caspar Van Der Made, Rocio Cabrera-Perez, Frederike Leonie Harms, Rico Chandra Ardy, Samin Alavi, Laia Alsina, Rainiero Avila Polo, Paula Sanchez Moreno, Raul Jimenez Heredia, Thomas Hannich, Johannes Huppa, Martin Distel, Winfried Pickl, Jeffrey Yoder, David Traver, Karin Engelhardt, Tobias Linden, Leo Kager, Sophie Hambleton, Alexander Hoischen, Sabine Illsinger, Zahra Chavoshzadeh, Kerstin Kutsche, Lydie Da Costa, Jaap Van Buul, Joan Calzada-Hernandez, Jordi Anton, Olaf Neth, Julien Viaud, Akihiko Nishikimi, Loic Dupre, Kaan Boztug
Journal: Blood
Blood (2023) 142 (Supplement 1): 4107.
https://doi.org/10.1182/blood-2023-172795
Published: 2023
Journal Articles

Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8 + T-cell function and perturbed glycolysis

Sevgi Kostel Bal, Sarah Giuliani, Jana Block, Peter Repiscak, Christoph Hafemeister, Tala Shahin, Nurhan Kasap, Bernhard Ransmayr, Yirun Miao, Cheryl van de Wetering, Alexandra Frohne, Raul Jimenez Heredia, Michael Schuster, Samaneh Zoghi, Vanessa Hertlein, Marini Thian, Aleksandr Bykov, Royala Babayeva, Sevgi Bilgic Eltan, Elif Karakoc-Aydiner, Lisa E. Shaw, Iftekhar Chowdhury, Markku Varjosalo, Rafael J. Argüello, Matthias Farlik, Ahmet Ozen, Edgar Serfling, Loïc Dupré, Christoph Bock, Florian Halbritter, J. Thomas Hannich, Irinka Castanon, Michael J. Kraakman, Safa Baris, Kaan Boztug
Journal: Blood
Blood (2023) 142 (9): 827–845.
https://doi.org/10.1182/blood.2022018303
Published: 2023
Includes: Supplemental data
Journal Articles

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

Hye Sun Kuehn, Julie E. Niemela, Jennifer Stoddard, Sara Ciullini Mannurita, Tala Shahin, Shubham Goel, Mary Hintermeyer, Raul Jimenez Heredia, Mary Garofalo, Laura Lucas, Smriti Singh, Annalisa Tondo, Zachary Jacobs, William A. Gahl, Sylvain Latour, James Verbsky, John Routes, Charlotte Cunningham-Rundles, Kaan Boztug, Eleonora Gambineri, Thomas A. Fleisher, Shanmuganathan Chandrakasan, Sergio D. Rosenzweig
Journal: Blood
Blood (2021) 137 (3): 349–363.
https://doi.org/10.1182/blood.2020007292
Published: 2021
Includes: Supplemental data
Journal Articles

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Sujal Ghosh, Sevgi Köstel Bal, Emily S. J. Edwards, Bethany Pillay, Raúl Jiménez Heredia, Funda Erol Cipe, Geetha Rao, Elisabeth Salzer, Samaneh Zoghi, Hassan Abolhassani, Tooba Momen, Emma Gostick, David A. Price, Yu Zhang, Andrew J. Oler, Claudia Gonzaga-Jauregui, Baran Erman, Ayse Metin, Inci Ilhan, Sule Haskologlu, Candan Islamoglu, Kubra Baskin, Serdar Ceylaner, Ebru Yilmaz, Ekrem Unal, Musa Karakukcu, Dagmar Berghuis, Theresa Cole, Aditya K. Gupta, Fabian Hauck, Hubert Kogler, Andy I. M. Hoepelman, Safa Baris, Elif Karakoc-Aydiner, Ahmet Ozen, Leo Kager, Dirk Holzinger, Michael Paulussen, Renate Krüger, Roland Meisel, Prasad T. Oommen, Emma Morris, Benedicte Neven, Austen Worth, Joris van Montfrans, Pieter L. A. Fraaij, Sharon Choo, Figen Dogu, E. Graham Davies, Siobhan Burns, Gregor Dückers, Ruy Perez Becker, Horst von Bernuth, Sylvain Latour, Maura Faraci, Marco Gattorno, Helen C. Su, Qiang Pan-Hammarström, Lennart Hammarström, Michael J. Lenardo, Cindy S. Ma, Tim Niehues, Asghar Aghamohammadi, Nima Rezaei, Aydan Ikinciogullari, Stuart G. Tangye, Arjan C. Lankester, Kaan Boztug
Journal: Blood
Blood (2020) 136 (23): 2638–2655.
https://doi.org/10.1182/blood.2020006738
Published: 2020
Includes: Supplemental data