Which syndrome is specifically associated with leukocyte adherence deficiency?

Study for the AAPD-QE. Prepare with flashcards and multiple choice questions, each question is accompanied by hints and explanations. Get ready for your exam!

Leukocyte adherence deficiency (LAD) is a condition characterized by a defect in the adhesion of white blood cells (leukocytes) to the blood vessel endothelium, which impairs their ability to migrate to sites of infection or injury. The condition is caused by mutations in genes that are essential for the expression of certain surface proteins on leukocytes, specifically integrins.

The association of leukocyte adherence deficiency with the correct answer is clear because this syndrome itself is defined by the specific inability of leukocytes to adhere properly to the endothelium due to these genetic defects. Patients with this syndrome typically experience recurrent bacterial infections, delayed separation of the umbilical cord, and other health issues related to immune dysfunction, which stem directly from the underlying problem of leukocyte adherence.

In contrast, the other conditions mentioned do not primarily involve a defect in leukocyte adherence. Cyclic neutropenia is a disorder characterized by periodic reductions in neutrophil counts but is not directly linked to adherence issues. Papillon Lefevre syndrome involves gum disease and skin lesions associated with genetic mutations affecting skin keratinization and does not involve leukocyte adherence. Hypophosphatasia is a metabolic disorder related to the deficiency of alkaline phosphatase and focuses on

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