Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.P178L
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ITGB2

NM_000211.5:p.P178L

Associated Papers

Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.

Erdem S et al.

Clinical Immunology (orlando, Fla.), 2023

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Case report: HLA-haploidentical hematopoietic cell transplant with posttransplant cyclophosphamide in a patient with leukocyte adhesion deficiency type I.

Yamashita M 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

A novel ITGB2 variant with long survival in patients with leukocyte adhesion defect type-I.

Celiksoy MH et al.

Immunologic Research, 2021

Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.

Kwon WK et al.

Allergy, Asthma & Immunology Research, 2020

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

Sun B et al.

Journal of Clinical Immunology, 2019

Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.

Deshpande P et al.

Indian Journal of Pediatrics, 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

Characterization of single amino acid substitutions in the β2 integrin subunit of patients with leukocyte adhesion deficiency (LAD)-1.

Guan S et al.

Blood Cells, Molecules & Diseases, 2015

Protein-protein interaction sites are hot spots for disease-associated nonsynonymous SNPs.

David A et al.

Human Mutation, 2012

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Chemotaxis of non-compressed blood polymorphonuclear leukocytes from an adolescent with severe leukocyte adhesion deficiency.

Malawista SE et al.

American Journal of Hematology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."