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Journal Articles

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

Blood (2023) 141 (6): 645–658.

https://doi.org/10.1182/blood.2022016783

Published: 2023

Includes: Supplemental data

Journal Articles

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Blood (2022) 140 (14): 1635–1649.

https://doi.org/10.1182/blood.2022015506

Published: 2022

Includes: Supplemental data

Journal Articles

Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

Blood (2022) 139 (13): 2066–2079.

https://doi.org/10.1182/blood.2021014687

Published: 2022

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

Blood (2020) 136 (23): 2638–2655.

https://doi.org/10.1182/blood.2020006738

Published: 2020

Includes: Supplemental data

Journal Articles

Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

Blood (2020) 136 (10): 1201–1211.

https://doi.org/10.1182/blood.2020005590

Published: 2020

Includes: Supplemental data

Journal Articles

EBV-triggered hemophagocytic lymphohistiocytosis in a boy with a history of non-Hodgkin lymphoma

Michael H. Albert, Fabian Hauck

Blood (2020) 136 (5): 644.

https://doi.org/10.1182/blood.2020006580

Published: 2020

Journal Articles

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

Blood (2019) 134 (Supplement_1): 216.

https://doi.org/10.1182/blood-2019-130083

Published: 2019

Journal Articles

Novel Immune Checkpoint Deficiency and Susceptibility to EBV-Associated Lymphoma

Ido Somekh, Thomas Magg, PhD, Alejandro Gallón Duque, Tali Stauber, MD, Atar Lev, MSc, Ekrem Unal, MD, Amos J. Simon, PhD, Meino Rohlfs, PhD, Raffaele Conca, MSc, Megumi Tatematsu, PhD, Fabian Hauck, MD PhD, Raz Somech, MD PhD, Christoph Klein, MD PhD

Blood (2019) 134 (Supplement_1): 2326.

https://doi.org/10.1182/blood-2019-128296

Published: 2019

Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD

Blood (2019) 134 (Supplement_1): 3580.

https://doi.org/10.1182/blood-2019-131136

Published: 2019

Journal Articles

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Blood (2019) 134 (18): 1510–1516.

https://doi.org/10.1182/blood.2019000644

Published: 2019

Includes: Supplemental data

Journal Articles

Allogeneic Hematopoietic Stem Cell Transplantation in Children and Adults with Chronic Granulomatous Disease (CGD): A Study of the Inborn Errors Working Party (IEWP) of the EBMT

Blood (2018) 132 (Supplement 1): 970.

https://doi.org/10.1182/blood-2018-99-114841

Published: 2018

Journal Articles

Rltpr Is a Central Scaffold Protein Regulating Human TCR Co-Signaling and Cytoskeletal Dynamics

Tilmann Schober, MD, Thomas Magg, PhD, Melanie Laschinger, PhD, Thomas Fröhlich, PhD, Meino Rohlfs, PhD, Yanshan Liu, PhD, Jacek Puchalka, PhD, Tanja Weisser, Karin Fehlner, PhD, Christoph Walz, MD, Natália Duarte Linhares, PhD, Sérgio D. Pena, MD PhD, Bernd H. Belohradsky, MD, Christoph Klein, MD PhD, Fabian Hauck, MD PhD

Blood (2016) 128 (22): 131.

https://doi.org/10.1182/blood.V128.22.131.131

Published: 2016

Journal Articles

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Jannik S Glasmacher, Tanja C Bittner, MD, Hans D Ochs, MD, Alessandro Aiuti, MD PhD, Peter D Arkwright, MD, Dmitry Balashov, Uta Behrends, Bernd H. Belohradsky, MD, Elisa Bertoni, David K. Buchbinder, MD MSHS, Michael Browning, Anastasiia Bondarenko, Fabio Candotti, MD, Alessandro Cattoni, Liudmyla Chernyshova, Joseph H. Chewning, MD, Peter Ciznar, Theresa Cole, Beatriz T Costa-Carvalho, Wojciech Czogala, Gregor Dueckers, David M Edgar, Fatih Erbey, Anders Fasth, MD PhD, Renata Formankova, MD PhD, Tomas Freiberger, Eleonora Gambineri, Andrew Gennery, MD, Frederick D Goldman, MD, Luis I Gonzalez-Granado, Tiago N Gulmaraes, David Hagin, MD PhD, Fabian Hauck, MD PhD, Tarja Heiskanen-Kosma, Manfred Hoenig, MD, Hanna Juntti, Hirokazu Kanegane, Leena Kainulainen, Neslihan E Karaca, Sara S Kilic, Christoph Klein, MD PhD, Sylwia Koltan, Irina Kondratenko, Dawei Liu, MD, Susanne Matthes, MD, Juliana T L Mazzucchelli, Isabelle Meyts, Siraj Misbah, Zohreh Nademi, Gulnara Nasrullayeva, Lucia D Notarangelo, Pere Soler-Palacin, Olga Pashchenko, Srdjan Pasic, Isabelle Pellier, MD, Claudio Pignata, Camilla Roepstorff, Catharina Schuetz, Ansgar S Schulz, MD PhD Prof., Gesmar R S Segundo, Anna Shcherbina, Joanne Smart, Robert A. Sokolic, MD, Polina Stepensky, MD, Troy Torgerson, MD PhD, Svetlana Vakhlyarskaya, Joris van Montfrans, MD PhD, Kim Vettenranta, MD PD, Beata Wolska-Kusnierz, Xiaodong Zhao, John B Ziegler, Xuan Zhang, Michael H. Albert, MD

Blood (2016) 128 (22): 366.

https://doi.org/10.1182/blood.V128.22.366.366

Published: 2016

Journal Articles

Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia

Tim Ripperger, Birgit Burkhardt, PhD MD, Fabian Hauck, MD PhD, Michael H. Albert, MD, Kathrin Thomay, Dr. rer. nat., Marcin Wlodarski, MD, Ayami Yoshimi, MD, Gudrun Göhring, MD, Brigitte Schlegelberger, Prof, MD, Charlotte M Niemeyer, Prof, MD, Doris Steinemann, Prof

Blood (2016) 128 (22): 5509.

https://doi.org/10.1182/blood.V128.22.5509.5509

Published: 2016

Journal Articles

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Blood (2016) 127 (18): 2193–2202.

https://doi.org/10.1182/blood-2015-04-642488

Published: 2016

Includes: Supplemental data

Journal Articles

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

Blood (2011) 117 (5): 1522–1529.

https://doi.org/10.1182/blood-2010-07-298372

Published: 2011

Includes: Supplemental data

NARROW

Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes

Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis

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

Hematopoietic cell transplantation in chronic granulomatous disease: a study of 712 children and adults

EBV-triggered hemophagocytic lymphohistiocytosis in a boy with a history of non-Hodgkin lymphoma

Defects in Signal Recognition Particle (SRP) Components Reveal an Essential and Non-Redundant Role for Granule Biogenesis and Differentiation of Neutrophil Granulocytes

Novel Immune Checkpoint Deficiency and Susceptibility to EBV-Associated Lymphoma

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

Allogeneic Hematopoietic Stem Cell Transplantation in Children and Adults with Chronic Granulomatous Disease (CGD): A Study of the Inborn Errors Working Party (IEWP) of the EBMT

Rltpr Is a Central Scaffold Protein Regulating Human TCR Co-Signaling and Cytoskeletal Dynamics

Wiskott-Aldrich Syndrome: A Retrospective Study on 575 Patients Analyzing the Impact of Splenectomy, Stem Cell Transplantation, or No Definitive Treatment on Frequency of Disease-Related Complications and Physician-Perceived Quality of Life

Clinical Heterogeneity in RUNX1-Associated Familial Myelodysplastic Syndrome - Report of Two Novel Pedigrees with Childhoodleukemia

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

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American Society of Hematology

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American Society of Hematology

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