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Journal Articles

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

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

Blood (2023) 142 (9): 827–845.

https://doi.org/10.1182/blood.2022018303

Published: 2023

Includes: Supplemental data

Journal Articles

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

Blood (2021) 137 (15): 2033–2045.

https://doi.org/10.1182/blood.2020008738

Published: 2021

Includes: Supplemental data

Journal Articles

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

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

Blood (2020) 136 (23): 2638–2655.

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

Published: 2020

Includes: Supplemental data

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

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly

Laurène Pfajfer, Markus G. Seidel, Raïssa Houmadi, Javier Rey-Barroso, Tatjana Hirschmugl, Elisabeth Salzer, Inés María Antón, Christian Urban, Wolfgang Schwinger, Kaan Boztug, Loïc Dupré

Blood (2017) 130 (17): 1949–1953.

https://doi.org/10.1182/blood-2017-04-777383

Published: 2017

Includes: Supplemental data

Journal Articles

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects

Stavroula Woutsas, Caner Aytekin, Elisabeth Salzer, Cecilia Domínguez Conde, Sema Apaydin, Herbert Pichler, Nima Memaran-Dadgar, Ferda Ozbay Hosnut, Elisabeth Förster-Waldl, Susanne Matthes, Wolf-Dietrich Huber, Thomas Lion, Wolfgang Holter, Ivan Bilic, Kaan Boztug

Blood (2015) 125 (10): 1674–1676.

https://doi.org/10.1182/blood-2014-08-595397

Published: 2015

Includes: Supplemental data

Journal Articles

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4 + T-cell lymphopenia

Nina Kathrin Serwas, Deniz Cagdas, Sol A. Ban, Kirsten Bienemann, Elisabeth Salzer, İlhan Tezcan, Arndt Borkhardt, Ozden Sanal, Kaan Boztug

Blood (2014) 124 (4): 655–657.

https://doi.org/10.1182/blood-2014-03-564930

Published: 2014

Journal Articles

Hematopoietic Stem Cell Gene Therapy For Wiskott- Aldrich Syndrome

Blood (2013) 122 (21): 718.

https://doi.org/10.1182/blood.V122.21.718.718

Published: 2013

Journal Articles

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

Blood (2013) 122 (21): 439.

https://doi.org/10.1182/blood.V122.21.439.439

Published: 2013

Journal Articles

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

Elisabeth Salzer, Elisangela Santos-Valente, Stefanie Klaver, Sol A. Ban, Wolfgang Emminger, Nina Kathrin Prengemann, Wojciech Garncarz, Leonhard Müllauer, Renate Kain, Heidrun Boztug, Andreas Heitger, Klaus Arbeiter, Franz Eitelberger, Markus G. Seidel, Wolfgang Holter, Arnold Pollak, Winfried F. Pickl, Elisabeth Förster-Waldl, Kaan Boztug

Blood (2013) 121 (16): 3112–3116.

https://doi.org/10.1182/blood-2012-10-460741

Published: 2013

Includes: Supplemental data

Journal Articles

Efficacy of Gene Therapy for Wiskott-Aldrich-Syndrome

Blood (2011) 118 (21): 165.

https://doi.org/10.1182/blood.V118.21.165.165

Published: 2011

Journal Articles

Successful Allogeneic Hematopoietic Stem Cell Transplantation for Severe Inflammatory Bowel Disease – IL10 Receptor Deficiency May Serve as a Novel Therapeutic Paradigm

Rita Beier, Daniel Kotlarz, Kaan Boztug, Erik Glocker, Eva Doreen Pfister, Jana Diestelhorst, Dhaarini Murugan, Ulrich Baumann, Sibylle Koletzko, Axel Sauerbrey, Stephan Bruderus, Bodo Grimbacher, Martin G. Sauer, MD, Karl-Walter Sykora, Christoph Klein

Blood (2010) 116 (21): 2379.

https://doi.org/10.1182/blood.V116.21.2379.2379

Published: 2010

Journal Articles

Correction of Wiskott-Aldrich Syndrome by Hematopoietic Stem Cell Gene Therapy

Blood (2010) 116 (21): 5.

https://doi.org/10.1182/blood.V116.21.5.5

Published: 2010

Journal Articles

Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency.

Blood (2010) 116 (21): 1495.

https://doi.org/10.1182/blood.V116.21.1495.1495

Published: 2010

Journal Articles

Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation.

Blood (2009) 114 (22): 713.

https://doi.org/10.1182/blood.V114.22.713.713

Published: 2009

Journal Articles

Comparative Analysis of Aberrant Autophagy in HAX1-Mutated and ELANE/ELA2-Mutated Neutrophil Granulocytes.

Giridharan Appaswamy, MSc, Kaan Boztug, MD, Rebecca Elisabeth Rittner, MD, Gudrun Brandes, MD, Karl Welte, MD, Cornelia Zeidler, MD, Christoph Klein, MD, PhD

Blood (2009) 114 (22): 550.

https://doi.org/10.1182/blood.V114.22.550.550

Published: 2009

Journal Articles

A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

Blood (2008) 112 (11): 5.

https://doi.org/10.1182/blood.V112.11.5.5

Published: 2008

Journal Articles

Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome.

Kaan Boztug, MD, Ricardo A. Dewey, PhD, Ines Avedillo Diez, Schmidt Manfred, PhD, Schwarzwaelder Kerstin, Diestelhorst Jana, Naundorf Sonja, Kuehlke Klaus, PhD, Kondratenko Irina, MD, Marodi Laszlo, Christof von Kalle, Karl Welte, Christoph Klein

Blood (2007) 110 (11): 502.

https://doi.org/10.1182/blood.V110.11.502.502

Published: 2007

NARROW

Human DOCK11 Deficiency Causes Defective Erythropoiesis and Systemic Inflammation

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

RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis

Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies

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

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

WIP deficiency severely affects human lymphocyte architecture during migration and synapse assembly

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4 + T-cell lymphopenia

Hematopoietic Stem Cell Gene Therapy For Wiskott- Aldrich Syndrome

Deficiency Of JAGN1 Causes Severe Congenital Neutropenia Associated With Defective Secretory Pathway and Aberrant Myeloid Cell Homeostasis

B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ

Efficacy of Gene Therapy for Wiskott-Aldrich-Syndrome

Successful Allogeneic Hematopoietic Stem Cell Transplantation for Severe Inflammatory Bowel Disease – IL10 Receptor Deficiency May Serve as a Novel Therapeutic Paradigm

Correction of Wiskott-Aldrich Syndrome by Hematopoietic Stem Cell Gene Therapy

Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency.

Severe Early-Onset Inflammatory Bowel Disease Caused by IL10 Receptor Deficiency Can Be Cured by Allogeneic Hematopoietic Stem Cell Transplantation.

Comparative Analysis of Aberrant Autophagy in HAX1-Mutated and ELANE/ELA2-Mutated Neutrophil Granulocytes.

A Novel Clinical Syndrome Associating Severe Congenital Neutropenia and Complex Developmental Aberrations Caused by Deficiency of G6PC3

Hematopoietic Stem Cell Gene Therapy for Wiskott-Aldrich Syndrome.

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American Society of Hematology

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American Society of Hematology

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