LFS

LFS or Leukocyte adhesion deficiency is a rare autosomal recessive disorder characterized by an inability of leukocytes (white blood cells) to migrate towards sites of infection, resulting in severe recurrent bacterial infections. The condition is caused by mutations in the ITGB2 gene, which encodes the beta-2 integrin subunit of the LFA-1 molecule.

Symptoms and Signs

Patients with LFS typically present with recurrent, severe bacterial infections. These infections often involve the skin, mucous membranes, and respiratory tract. Other symptoms may include delayed wound healing, periodontitis, and severe gingivitis.

Causes

LFS is caused by mutations in the ITGB2 gene. This gene encodes the beta-2 integrin subunit of the LFA-1 molecule, which is crucial for the adhesion and migration of leukocytes. Without functional LFA-1, leukocytes are unable to migrate towards sites of infection, leading to the characteristic symptoms of LFS.

Diagnosis

Diagnosis of LFS is based on clinical findings, laboratory tests, and genetic testing. Laboratory tests typically show elevated levels of circulating leukocytes, while genetic testing can confirm the presence of mutations in the ITGB2 gene.

Treatment

Treatment for LFS is primarily supportive and includes aggressive management of infections with antibiotics. In severe cases, hematopoietic stem cell transplantation may be considered.

See also

• Leukocyte
• ITGB2
• Integrin
• LFA-1
• Hematopoietic stem cell transplantation

References

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