Infusions of immune globulin can reduce the frequency of bacterial infections, and G-CSF or GM-CSF therapy improves blood neutrophil counts. As<unk>  is a molecular disease arising from gain-of-function mutations in CXCR4, preclinical studies identified plerixafor, a specific CXCR4 antagonist, as a potential mechanism-based therapeutic for the disease. Two subsequent clinical trials involving a handful of patients with<unk>  demonstrated that plerixafor could increase white blood cell counts and continues to be a promising targeted therapy. A woman with spontaneous remission of her<unk>  due to chromothripsis in one of her blood stem cells has been identified. In support of these studies, a 2014 phase I clinical trial treated three patients diagnosed with<unk>  with plerixafor twice a day for six months. All three patients presented with multiple reoccurring infections before treatment and all had an increase in their white blood cell count post treatment. One patient (P3) had a decrease in his infections by 40% while the remaining two patients (P1 and P2) had no infections throughout the entirety of the treatment. Plerixafor may also prove to have anti-human papillomavirus (HPV) properties as all patients experienced a shrinkage or complete disappearance of their warts. While this treatment shows promise in treating neutropenia (decreased white blood cells), this trial showed no increase of immune globulins in the body. A phase III clinical trial has been approved to compare the infection prevention ability of plerixafor versus the current treatment of G-CSF in patients with<unk> .
WHIM syndrome
RIDDLE syndrome
TAN syndrome
MORM syndrome
3-M syndrome
SUNCT syndrome
MASA syndrome
Kearns–Sayre syndrome