Associated Papers
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Case Report: A Case of Leukocyte Adhesion Deficiency, Type III Presenting With Impaired Platelet Function, Lymphocytosis and Granulocytosis.
Yahya AM et al.
Frontiers in Pediatrics, 2021
Leukocyte adhesion defect: Where do we stand circa 2019?
Das J et al.
Genes & Diseases, 2020
A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family.
Shahid S et al.
Frontiers in Genetics, 2019
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene.
Palagano E et al.
Bone, 2017
Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.
Suratannon N et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2016
Leukocyte adhesion deficiencies.
Hanna S et al.
Annals of the New York Academy of Sciences, 2012
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E et al.
Blood Cells, Molecules & Diseases, 2012
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models.
Nurden AT et al.
Blood, 2011
A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion.
Robert P et al.
Journal of Immunology (baltimore, Md. : 1950), 2011
Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro.
McDowall A et al.
Blood, 2010
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