An autosomal dominant mutation in CXCR4 is associated with which congenital immunodeficiency?

The association of an autosomal dominant mutation in the CXCR4 gene with WHIM syndrome is well-established. WHIM syndrome, which stands for Warts, Hypogammaglobulinemia, Infections, and Myelokathexis, is characterized by a unique set of clinical features, including recurrent bacterial infections, lymphocyte and antibody deficiencies, as well as the presence of warts.

In WHIM syndrome, the mutation leads to the disruption of normal signaling pathways involved in the migration and function of immune cells, particularly neutrophils and lymphocytes. This results in an impaired immune response, making individuals more susceptible to infections. The CXCR4 gene encodes a receptor for the chemokine stromal cell-derived factor-1 (SDF-1), which is crucial for the homing and retention of immune cells in lymphoid tissues.

Other options associated with immunodeficiencies involve different genetic mutations or mechanisms. Hyper-IgE syndrome is primarily linked to mutations in the STAT3 gene, while X-linked agammaglobulinemia involves mutations in the BTK gene. Severe combined immunodeficiency (SCID) is commonly associated with mutations in various genes impacting T and B cell development, notably IL