Leukocyte-adhesion deficiency 2 is due to the absence of __________.
## **Core Concept**
Leukocyte-adhesion deficiency (LAD) is a rare immunodeficiency disorder characterized by the inability of leukocytes to adhere to endothelial cells and migrate to sites of infection. This condition is primarily associated with defects in the genes encoding the subunits of integrins or other molecules crucial for leukocyte adhesion. There are two main types of LAD, with LAD2 being related to a different set of molecules compared to LAD1.
## **Why the Correct Answer is Right**
Leukocyte-adhesion deficiency 2 (LAD2) is caused by mutations in the **SLC35C1** gene, which encodes a GDP-fucose transporter. This transporter is essential for the proper functioning of selectin ligands on leukocytes, which are crucial for the initial tethering and rolling of leukocytes on endothelial cells during the inflammatory response. Without functional selectin ligands, leukocytes cannot properly adhere and migrate to sites of inflammation.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option is incorrect because LAD1 is associated with defects in the integrin molecules (e.g., CD18), not with the condition described for LAD2.
- **Option B:** This option does not directly relate to the known genetic causes of LAD2.
- **Option C:** While some genetic deficiencies can lead to immunodeficiency, the specific association with LAD2 and the absence of a particular molecule related to **SLC35C1** makes this option incorrect.
## **Clinical Pearl / High-Yield Fact**
A key clinical pearl for LAD2 is that patients often present with recurrent infections, similar to LAD1, but may also have developmental delays and other systemic issues. Unlike LAD1, LAD2 patients do not typically have issues with wound healing or omphalitis but may exhibit intellectual disability and distinctive facial features.
## **Correct Answer:** .