Question

Which genetic defect is associated with a condition characterized by partial hypopigmentation, immune deficiency, and impaired cellular function due to mutations in the LYST gene, and what are the primary affected cells and functions?

A. Mutation in the LYST gene; melanocytes, neutrophils, platelets; melanosomal secretion, phagocytosis, cellular trafficking
B. Defect in the CD18 gene; B cells, T cells; antibody production and immune regulation
C. Mutation in the BTK gene; myeloid cells; antigen presentation and phagocytosis
D. Deficiency in the FoxP3 gene; regulatory T cells; self-tolerance and autoimmunity

Answer 1

The genetic defect associated with partial hypopigmentation, immune deficiency, and impaired cellular function is a mutation in the LYST gene, which affects melanocytes, neutrophils, and platelets, and is known as Chédiak-Higashi syndrome.

Step-by-step explanation:

The genetic defect associated with a condition characterized by partial hypopigmentation, immune deficiency, and impaired cellular function due to mutations in the LYST gene is identified as Chédiak-Higashi syndrome (CHS). The primary affected cells and functions are melanocytes, neutrophils, and platelets; with the main issues being linked to melanosomal secretion, phagocytosis, and cellular trafficking. Therefore, the correct answer is: A. Mutation in the LYST gene; melanocytes, neutrophils, platelets; melanosomal secretion, phagocytosis, cellular trafficking. In individuals with Chédiak-Higashi syndrome, these mutations in the LYST gene lead to the malfunctioning of lysosomes, which is responsible for the clinical manifestations of the disease.