Leucocyte adhesion defect
Overview
Leukocyte-adhesion deficiency (abbreviated LAD), is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections.[1] The disorder is often divided into two separate genotypes called type I and type II, with type II being associated with fewer infections but more developmental delay
Symptoms
* Umbilical cord does not drop off * Very high white blood cell count * Severe bacterial infections * Severe fungal infections * Skin infections
Diagnosis
Typically, diagnosis is made after several preliminary tests of immune function are made, including basic evaluation of the humoral immune system and the cell-mediated immune system. A WBC differential will reveal extremely elevated levels of neutrophils (on the order of 6-10x normal) because they are unable to leave the blood vessels. Specific diagnosis is made through monoclonal antibody testing for CR3, one of the three complete proteins which fail to form properly as a result of β-2 integrin subunit deficiency.
Treatment
Once the diagnosis of LAD is made, bone marrow transplantation is the current standard of care.[2] However, some progress has been made in gene therapy, an active area of research.