Publications by authors named "Laura Gámez-Díaz"

16Publications

A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T17 immunity.

J Allergy Clin Immunol 2018 12 5;142(6):1968-1971. Epub 2018 Sep 5.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Laboratory of Immunoregulation, VIB-UGent Inflammation Research Center, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium.

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December 2018

"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.

Front Immunol 2018 9;9:966. Epub 2018 May 9.

Center for Chronic Immunodeficiency (CCI), Medical Center - Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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July 2019

Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.

J Clin Immunol 2018 05 26;38(4):471-474. Epub 2018 May 26.

Research Department, Immunology Laboratory, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, 223053, Borovliani, Minsk Region, Belarus.

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May 2018

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.

Front Immunol 2018 23;9:720. Epub 2018 Apr 23.

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany.

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May 2019

Immunological phenotype of the murine Lrba knockout.

Immunol Cell Biol 2017 10 25;95(9):789-802. Epub 2017 Jul 25.

Center for Chronic Immunodeficiency (CCI), Medical Center-Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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October 2017

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

J Clin Endocrinol Metab 2016 Mar 8;101(3):898-904. Epub 2016 Jan 8.

Pediatric Endocrinology (F.S., M.P., B.Go., J.W.), Pediatric Gastroenterology and Hepatology (G.D.), and Pediatric Hematology and Oncology (S.S.), Children's Hospital, University of Bonn, 53113 Bonn, Germany; Center for Chronic Immunodeficiency (L.G.-D., B.Gr.), University Medical Center and University of Freiburg, 79085 Freiburg, Germany; Institute for Human Genetics (A.C.H., H.R.), University of Bonn, 53113 Bonn, Germany; and Department of Neonatology and Pediatric Intensive Care (H.R.), Children's Hospital, University of Bonn, 53113 Bonn, Germany.

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March 2016

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

J Allergy Clin Immunol 2015 May 22;135(5):1384-90.e1-8. Epub 2014 Dec 22.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria. Electronic address:

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May 2015

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.

Inflamm Bowel Dis 2015 Jan;21(1):40-7

*CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; †Department of Pediatric Gastroenterology, Ankara University, Ankara, Turkey; ‡Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; §Department of Pediatric Gastroenterology, Akdeniz University, Antalya, Turkey; ‖Konya Training and Research Hospital, Konya, Turkey; ¶Department of Pathology, Ankara University, Ankara, Turkey; and **Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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January 2015