Clinical and molecular features of one case of leukocyte adhesion deficiency type-1
WANG Tao
JIANG Liping
GAO Hong
ZHAO Xiaodong
Abstract：Leukocyte adhesion deficiency type-1 (LAD-1) is one of the rare autosomal recessive primary immunodeficiency diseases.This study enrolled a male patient diagnosed as LAD-1 at 5 years old and aimed to explore the clinical and molecular features of LAD-1.Omphalitis was the initial symptom happened when he was 2 months old.And then he suffered from severe and recurrent infections (pneumonia,otitis media,thrush,gingivitis),and recurrent gingivitis led to the loss of deciduous teeth earlier than healthy children.Chronic skin infection and delayed wounds healing started when he was 3 years old;markedly increased leukocyte counts with a predominance of neutrophils and high level of immunoglobulins were observed in this patient;CD18 on the surfaces of leukocytes were moderate deficiency in this patient whereas were normal in his parents;one homozygous mutation c.1768T＞C (p.C590R) in ITGB2 gene was identified and his parents were confirmed as carriers.Thus it is important for physicians to realize that patients suffering recurrent skin,mucosa and soft tissue infections,markedly elevated leukocyte counts and high level of immunoglobulins should be suspicious of LAD-1.CD18 expression measured by flow analysis is a rapid clinical diagnosis method and ITGB2 gene analysis is the golden standard for LAD-1 diagnosis.
Keywords：Leukocyte adhesion deficiency type 1Clinical featuresCD18ITGB2Gene mutation
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 697-702 )