Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing

Maksim Klimiankou; Ivan Tesakov; Grigorios Tsaknakis; Erasmia Boutakoglou; Irene Mavroudi; Malte Ritter; Marc Sturm; Julia Skokowa; Helen A Papadaki

doi:10.3324/haematol.2024.285569

Expanding the genetic landscape of congenital neutropenia: CXCR2 mutations in three families revealed through whole exome sequencing

Haematologica. 2024 Dec 1;109(12):4140-4144. doi: 10.3324/haematol.2024.285569.

Authors

Maksim Klimiankou¹, Ivan Tesakov¹, Grigorios Tsaknakis², Erasmia Boutakoglou², Irene Mavroudi², Malte Ritter¹, Marc Sturm³, Julia Skokowa¹, Helen A Papadaki⁴

Affiliations

¹ Division of Translation Oncology, Department of Oncology, Hematology, Immunology, and Rheumatology, University Hospital Tübingen, Tübingen.
² Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete.
³ Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen, Tübingen.
⁴ Department of Hematology, University Hospital of Heraklion, Heraklion, Greece; Hemopoiesis Research Laboratory, School of Medicine, University of Crete. e.papadaki@uoc.gr.

No abstract available

Grants and funding

Funding: The work was supported by (i) a grant from the COST (European Cooperation in Science and Technology) Action CA18233 “European Network for Innovative Diagnosis and Treatment of Chronic Neutropenias, EuNet-INNOCHRON” (to HAP) and (ii) the grants Junior Research Group (JRG) from the Faculty of Medicine, University of Tübingen, Germany (to MK), the BMBF consortium MyPred (to MR), and the M. Schickedanz Stiftung (to IT).