A novel mutation in leukocyte adhesion deficiency type II/CDGIIc

Area of Science:

• Immunology
• Genetics
• Biochemistry

Background:

• Leukocyte adhesion deficiencies (LAD) are rare autosomal recessive disorders impacting the immune system.
• LAD type II (LAD II), also known as congenital disorder of glycosylation IIc (CGDIIc), results from impaired leukocyte rolling due to mutations in the GDP-fucose transporter (GFTP).

Observation:

• This report details two Turkish siblings with LAD II, presenting with characteristic features including leukocytosis, dysmorphic traits, and psychomotor retardation.
• A novel mutation in the GFTP gene was identified in both affected siblings.
• The older sibling succumbed to severe pneumonia, while the younger sibling showed positive response to high-dose oral fucose supplementation.

Findings:

• The study confirms the critical role of GFTP in leukocyte adhesion and immune function.
• Novel mutation in GFTP identified in Turkish siblings with LAD II.
• Fucose supplementation demonstrated therapeutic potential in a patient with LAD II.

Implications:

• This research expands the understanding of LAD II genetic mutations and clinical manifestations.
• Fucose supplementation offers a promising therapeutic strategy for LAD II patients.
• The presence of secundum atrial septal defect in both patients suggests a potential link between fucosylation defects and cardiac anomalies.