Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1.
Booth C et al.
The New England Journal of Medicine, 2025
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Clinical and laboratory findings in patients with leukocyte adhesion deficiency type I: A multicenter study in Turkey.
Yaz I et al.
Clinical and Experimental Immunology, 2021
Clinical and Genetic Spectrum of a Large Cohort of Patients With Leukocyte Adhesion Deficiency Type 1 and 3: A Multicentric Study From India.
Kambli PM et al.
Frontiers in Immunology, 2020
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Grabowski P et al.
Molecular & Cellular Proteomics : Mcp, 2019
Leucocyte adhesion deficiency-A multicentre national experience.
Wolach B et al.
European Journal of Clinical Investigation, 2019
Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.
Levy-Mendelovich S et al.
Immunologic Research, 2016
Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: identification of 9 novel mutations.
Madkaikar M et al.
Blood Cells, Molecules & Diseases, 2015
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E et al.
Blood Cells, Molecules & Diseases, 2012
The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients.
Simon AJ et al.
Plos One, 2010
Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I.
Lorusso F et al.
Fertility and Sterility, 2006
Leukocyte adhesion deficiency-I: A comprehensive review of all published cases.
Almarza Novoa E et al.
The Journal of Allergy and Clinical Immunology. in Practice, 0