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A compound heterozygous case of leukocyte adhesion deficiency type-1 with moderate CD18 expression and severe disease

Year: 2025

Type: article

Abstract: A child with severe leukocyte adhesion deficiency type-1 (LAD-1) was found to have compound heterozygous ITGB2 mutations. Despite moderate CD18 expression, the patient experienced life-threatening infections, demonstrating that protein levels do not always correlate with clinical severity.

Source: Journal of Human Immunity

DOI: 10.70962/jhi.20250124

Authors: Jeremy Richard Brozyna, Rosemary Moak, Loretta Modica Parker, Thomas Prescott Atkinson

Institutions: University of Alabama at Birmingham, UAB Medicine

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4413412665