Variable CD18 expression in a 22-year-old female with leukocyte adhesion deficiency I: Clinical case and literature review.

ABSTRACT:

Key clinical message

Partial leukocyte adhesion deficiency type 1 (LAD-1) deficiency is extremely rare condition with milder infectious manifestation and immune system imbalance leads to increased risks of autoinflammatory complications, such as pyoderma gangrenosum, that can be triggered by trauma or pregnancy. In patients with spice-site ITGB2 variants, partial expression can occur due to different β2 integrin isophorms expression.

Abstract

LAD-1, OMIM ID #116920 is a rare, autosomal recessive disorder that results from mutations in the ITGB2 gene that encodes the CD18 β2 integrin subunit. According to the CD18 expression, LAD-1 is categorized as severe (<2%), moderate (2%-30%), or mild (>30%). Here, we describe a 22-year-old female, who presented with inflammatory

SUBMITTER: Bondarenko AV 

PROVIDER: S-EPMC10432584 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature