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Journal Articles

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

Blood (2024) 144 (8): 873–887.

https://doi.org/10.1182/blood.2024024499

Published: 2024

Includes: Supplemental data

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

Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia

Alessandro Casini, Sylvia von Mackensen, Cristina Santoro, Claudia Djambas Khayat, Meriem Belhani, Cecil Ross, Akbar Dorgalaleh, Arshi Naz, Ekrem Ünal, Magy Abdelwahab, Elise Dupuis Lozeron, Nathalie Trillot, Sophie Susen, Flora Peyvandi, Philippe de Moerloose

Blood (2021) 137 (22): 3127–3136.

https://doi.org/10.1182/blood.2020009472

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

Blood (2020) 136 (23): 2638–2655.

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

Published: 2020

Includes: Supplemental data

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

Next Generation Proteomics of Human Neutrophil Granulocytes in Monogenic Disease

Sebastian Hesse, MD, Christoph Klein, MD PhD, Piotr Grabowski, Rappsilber Juri, Prof., Uta Behrends, Prof. Dr., Roya Sherkat, Prof., Ekrem Unal, MD

Blood (2018) 132 (Supplement 1): 15.

https://doi.org/10.1182/blood-2018-99-114764

Published: 2018

Journal Articles

Central Nervous System Fungal Infections in Children with Leukemia, Risk Factors and Outcome: A Multicentric Study

Rejin Kebudi, MD, Serap Karaman, MD, Hande Kizilocak, Zeynep Karakas, Melike Sezgin Evim, Bengü Demirag, Zuhre Kaya, Husniye Nese Yarali, Umran Caliskan, B.Sahin Karagun, Canan Albayrak, MD, Sebnem Yilmaz, Deniz Karapinar, Ekrem Unal, MD, Adalet Meral Gunes, Neryal Tahta, Zeliha Guzelkucuk, Ulker Kocak, MD, Tiraje Celkan, MD

Blood (2018) 132 (Supplement 1): 5169.

https://doi.org/10.1182/blood-2018-99-112712

Published: 2018

Journal Articles

Busulfan/Fludarabine- or Treosulfan/Fludarabine-Based Conditioning Regimen in Patients with Wiskott-Aldrich Syndrome Given Allogeneic Hematopoietic Cell Transplantation — an EBMT Inborn Errors Working Party and Scetide Retrospective Analysis

Blood (2018) 132 (Supplement 1): 2175.

https://doi.org/10.1182/blood-2018-99-112394

Published: 2018

Journal Articles

Novel Mutations in RASGRP1 Are Associated with Immune Dysregulation and Predispose to EBV-Induced Lymphoma

Ido Somekh, MD, Benjamin Marquardt, MSc, Yanshan Liu, PhD, Meino Rohlfs, PhD, Shirly Frizinsky, MD, Ekrem Unal, MD, Daniel Kotlarz, MD PhD, Raz Somech, MD PhD, Christoph Klein, MD PhD

Blood (2017) 130 (Supplement 1): 2287.

https://doi.org/10.1182/blood.V130.Suppl_1.2287.2287

Published: 2017

Journal Articles

Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling

Ah Ram Kim, PhD, Jacob C Ulirsch, Stephan Wilmes, Ekrem Unal, Ignacio Moraga, Musa Karakukcu, Daniel Yuan, Shideh Kazerounian, Namrata Gupta, Stacey B Gabriel, PhD, Eric S Lander, PhD, Turkan Patiroglu, Alper Ozcan, Mehmet Ozdemir, Christopher Garcia, Jacob Piehler, Hanna Gazda, MD PhD, Daryl Klein, Vijay G Sankaran, MD PhD

Blood (2016) 128 (22): 331.

https://doi.org/10.1182/blood.V128.22.331.331

Published: 2016

Journal Articles

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Blood (2014) 123 (24): 3811–3817.

https://doi.org/10.1182/blood-2013-11-535419

Published: 2014

Includes: Supplemental data

Journal Articles

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Alexa Triot, Päivi M Järvinen, Juan I. Arostegui, MD, Tomas Racek, PhD, Jacek Puchalka, Jose Luis Dapena Díaz, MD, Naschla Kohistani, MD, E. Michael Gertz, PhD, Alejandro A. Schäffer, Cristina Díaz de Heredia Rubio, MD, Mehmet A. Ozdemir, MD, Turkan Patiroglu, MD, Musa Karakukcu, MD, José Sanchez de Toledo Codina, MD, Jordi Yagüe, MD, PhD, Ekrem Unal, Christoph Klein, MD PhD

Blood (2013) 122 (21): 1025.

https://doi.org/10.1182/blood.V122.21.1025.1025

Published: 2013

Journal Articles

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

Blood (2013) 121 (8): 1345–1356.

https://doi.org/10.1182/blood-2012-07-442558

Published: 2013

Includes: Supplemental data

NARROW

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

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

Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia

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

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

Next Generation Proteomics of Human Neutrophil Granulocytes in Monogenic Disease

Central Nervous System Fungal Infections in Children with Leukemia, Risk Factors and Outcome: A Multicentric Study

Busulfan/Fludarabine- or Treosulfan/Fludarabine-Based Conditioning Regimen in Patients with Wiskott-Aldrich Syndrome Given Allogeneic Hematopoietic Cell Transplantation — an EBMT Inborn Errors Working Party and Scetide Retrospective Analysis

Novel Mutations in RASGRP1 Are Associated with Immune Dysregulation and Predispose to EBV-Induced Lymphoma

Discovery of the First Pathogenic Human EPO Mutation Provides Mechanistic Insight into Cytokine Signaling

Inherited biallelic CSF3R mutations in severe congenital neutropenia

Inherited Biallelic Loss-Of-Function Mutations In CSF3R Define a Novel Type Of Severe Congenital Neutropenia With Full Myeloid Cell Maturation and Refractoriness To RhG-CSF

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

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American Society of Hematology

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American Society of Hematology

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