Inheritance: autosomal dominant
Chromosome location: 2q21
Gene affected: CXCR4
Function: chemokine receptor
Key clinical features:
(1)
warts, including genital
(2) hypogammaglobulinemia
(3) recurrent infections (sinusitis, tonsillitis, otitis media, pneumonia)
(4) myelokathexis (chronic noncyclic neutropenia with hypercellular bone marrow associated with defective release of mature myeloid cells into the peripheral blood)
Laboratory findings:
(1) neutropenia
(2) hypogammaglobulinemia
Complications:
(1) HPV-related dysplasia and squamous cell carcinomas
(2) recurrent infections
Therapy with GM-CSF can normalize the neutrophil count.
