Publications by authors named "Karin van Leeuwen"

36Publications

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees.

Br J Haematol 2020 Dec 23;191(5):930-934. Epub 2020 Sep 23.

Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.

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December 2020

Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats' Disease and Literature Review.

J Clin Immunol 2020 08 7;40(6):940-947. Epub 2020 Jul 7.

Research Center for Immunodeficiencies, Tehran University of Medical Sciences, Tehran, Iran.

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August 2020

Genetic Characteristics, Infectious, and Noninfectious Manifestations of 32 Patients with Chronic Granulomatous Disease.

Int Arch Allergy Immunol 2020 8;181(7):540-550. Epub 2020 Jun 8.

Department of Pediatric Infectious Disease, Istanbul University-Cerrahpasa, Cerrahpasa Medical School, Istanbul, Turkey.

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November 2020

Recurrent skin abscesses in a female X-linked chronic granulomatous disease carrier.

J Cosmet Dermatol 2020 Jul 10;19(7):1810-1812. Epub 2020 Mar 10.

Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey.

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July 2020

Activation of cryptic splice sites in three patients with chronic granulomatous disease.

Mol Genet Genomic Med 2019 09 30;7(9):e854. Epub 2019 Jul 30.

Sanquin Research and Landsteiner Laboratory, Amsterdam Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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September 2019

Identification of genetic biomarkers for alloimmunization in sickle cell disease.

Br J Haematol 2019 09 5;186(6):887-899. Epub 2019 Jun 5.

Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.

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September 2019

An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection.

BMC Infect Dis 2018 Nov 8;18(1):552. Epub 2018 Nov 8.

Clinical Tuberculosis and Epidemiology Research Centre, National Research Institute for Tuberculosis and Lung Disease (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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November 2018

p47 Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease.

J Clin Immunol 2018 08 9;38(6):638-641. Epub 2018 Aug 9.

Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohaematology (ICMR), 13th Floor, NMS Building, KEM Hospital Campus, Parel, Mumbai, 400012, India.

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August 2018

Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease.

J Allergy Clin Immunol Pract 2018 Sep - Oct;6(5):1775-1777.e1. Epub 2018 Feb 2.

Institute of Immunity and Transplantation, University College London, London, United Kingdom; Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom. Electronic address:

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November 2019

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.

J Med Genet 2018 03 13;55(3):166-172. Epub 2018 Jan 13.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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March 2018

Factor H-Related (FHR)-1 and FHR-2 Form Homo- and Heterodimers, while FHR-5 Circulates Only As Homodimer in Human Plasma.

Front Immunol 2017 18;8:1328. Epub 2017 Oct 18.

Department of Immunopathology, Sanquin Research and Landsteiner Laboratory of the Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.

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October 2017

Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.

Blood Cells Mol Dis 2017 07 18;66:50-57. Epub 2017 Aug 18.

Sanquin Research, and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. Electronic address:

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July 2017