Associated Papers
Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets.
Ochoa S et al.
The Journal of Allergy and Clinical Immunology, 2025
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Pantea CL et al.
Scientific Reports, 2025
A novel ITGB2 variant in a patient with severe recurrent pyoderma gangrenosum-like lesions and underlying leukocyte adhesion deficiency type I: case report and literature review.
Norouzi-Barough L et al.
Archives of Dermatological Research, 2025
Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.
Bondarenko AV et al.
Clinical Case Reports, 2023
Hematologically important mutations: Leukocyte adhesion deficiency (second update).
Roos D et al.
Blood Cells, Molecules & Diseases, 2023
Hematologically important mutations: leukocyte adhesion deficiency (first update).
van de Vijver E et al.
Blood Cells, Molecules & Diseases, 2012
A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.
Bernard Cher TH et al.
Biochemical and Biophysical Research Communications, 2011
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