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

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 gene that encodes the CD18 β2 integrin subunit.

-associated infective endocarditis in a girl with Barlow's mitral valve disease.

We present a case of infective endocarditis caused by Streptococcus gordonii in an 11-year-old girl with Barlow's mitral valve disease. The differential diagnosis of rheumatic carditis and infective endocarditis was difficult as the patient fulfilled the Jones criteria. Vegetation on the mitral valve which became evident later in course of the disease and positive blood culture allowed diagnosing "definite" infective endocarditis.