<unk>  results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4, resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. The truncation of the receptor protein results in the inability of downregulation after stimulation. Thus, the receptor remain in an activated state.<unk>  is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking. An association with GRK3 has also been observed.
WHIM syndrome
RIDDLE syndrome
TAN syndrome
MORM syndrome
3-M syndrome
SUNCT syndrome
MASA syndrome
Kearns–Sayre syndrome