Varaico: Literature-Extracted Genetic Variants

Gene:ITGB2
Variant:p.G273R
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ITGB2

NM_000211.5:p.G273R

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

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

Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.

Godinez-Zamora GF et al.

Frontiers in Immunology, 2025

41190063 (PubMed )
Supplement: Table2.xlsx › Sheet1

Sweet syndrome associated with moderate leukocyte adhesion deficiency type I: a case report and review of the literature.

Saito Y et al.

Frontiers in Immunology, 2024

Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation.

Anis S et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2023

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.

Fuentes-Lara EI et al.

Allergologia Et Immunopathologia, 2023

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

35874699 (PubMed )
Supplement: Table_2.xlsx › Suppl_table_2

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

Primary immunodeficiency-related genes in neonatal intensive care unit patients with various genetic immune abnormalities: a multicentre study in China.

Zhu T et al.

Clinical & Translational Immunology, 2021

Leukocyte Adhesion Deficiency Type 1 Due to Novel ITGB2 Mutation.

Harvey S et al.

Irish Medical Journal, 2020

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1).

Nawaz Tipu H et al.

Immunobiology, 2020

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

Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.

Hong S et al.

Molecular Genetics & Genomic Medicine, 2019

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

Sun B et al.

Journal of Clinical Immunology, 2019

Novel Mutations in the β2 Integrin Gene (ITGB2) in a Moderate Leukocyte Adhesion Defect type 1 Patient.

Hu J et al.

Archives of Iranian Medicine, 2018

Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).

Yamazaki-Nakashimada M et al.

Immunologic Research, 2015

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

Neutrophil function and molecular analysis in severe leukocyte adhesion deficiency type I without separation delay of the umbilical cord.

Tsai YC et al.

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 2008

A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.

Hogg N et al.

The Journal of Clinical Investigation, 1999

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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."