Which chemokine receptor is associated with WHIM syndrome?

WHIM syndrome, which stands for warts, hypogammaglobulinemia, infections, and myelokathexis, is a rare immunodeficiency disorder caused by mutations in the CXCR4 gene. This gene encodes the chemokine receptor CXCR4, which plays a crucial role in the normal development and functioning of the immune system. The CXCR4 receptor is particularly important for the migration of immune cells, specifically lymphocytes and myeloid cells, to various tissues.

In WHIM syndrome, the mutations lead to a dysfunctional receptor, which impairs lymphocyte trafficking and results in the characteristic symptoms of the disease. The inability of immune cells to exit the bone marrow leads to myelokathexis, which is the retention of neutrophils in the bone marrow. This retention contributes to the immunodeficiency and increased susceptibility to infections, along with other clinical features of the syndrome.

The other chemokine receptors listed — CCR7, CCR5, and CXCR5 — are associated with different immune processes and conditions. CCR7 is involved in lymphocyte homing and dendritic cell migration, CCR5 is known for its role in HIV entry into cells, and CXCR5 is critical for B