Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.G284S
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ITGB2

NM_000211.5:p.G284S

Associated Papers

Lentiviral Gene Therapy for Severe Leukocyte Adhesion Deficiency Type 1.

Booth C et al.

The New England Journal of Medicine, 2025

40305711 (PubMed )
Supplement: nejmoa2407376_appendix.pdf

Clinical and immunological characteristics of 69 leukocyte adhesion deficiency-I patients.

Fazlollahi MR et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2023

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

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

Report of a Chinese Cohort with Leukocyte Adhesion Deficiency-I and Four Novel Mutations.

Sun B et al.

Journal of Clinical Immunology, 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

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

A novel point mutation in CD18 causing leukocyte adhesion deficiency in a Chinese patient.

Li L et al.

Chinese Medical Journal, 2010

Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature.

Cox DP et al.

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics, 2008

Gain-of-glycosylation mutations.

Vogt G et al.

Current Opinion in Genetics & Development, 2007

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.

Vogt G et al.

Nature Genetics, 2005

Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Fathallah DM et al.

Journal of Biomedicine & Biotechnology, 2001

A novel point mutation in CD18 causing the expression of dysfunctional CD11/CD18 leucocyte integrins in a patient with leucocyte adhesion deficiency (LAD).

Mathew EC et al.

Clinical and Experimental Immunology, 2000

Molecular characterization of leukocyte adhesion deficiency in six patients.

Wright AH et al.

European Journal of Immunology, 1995

Genetic and immunological assessment of a bone marrow transplantation in a patient with a primary immune defect: leukocyte adhesion deficiency.

Jamal T et al.

Archives De L'institut Pasteur De Tunis, 0

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

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