Clinical features, laboratory and molecular findings of children with leukocyte adhesion deficiency type-III from a single center in India

• Main Authors: Akshaya Chougule (Author), Prasad Taur (Author), Vaishnavi V. Iyengar (Author), Vijaya Gowri (Author), Bipin P. Kulkarni (Author), Manisha R. Madkaikar (Author), Minnie Bodhanwala (Author), Mukesh M. Desai (Author)
• Format: Book
• Published: Elsevier, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Leukocyte adhesion deficiency (LAD) Type-III is caused by homozygous mutations in FERMT3 causing Kindlin-3 deficiency. Here we describe three children with molecularly proven LAD-III presenting with neonatal onset mucocutaneous bleeding, infections and persistent neutrophilic leukocytosis. CD18 and...