Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings.
Jessica GalliLorenzo PinelliSerena MichelettiGiovanni PalumboLucia Dora NotarangeloVassilios LougarisLaura DottaElisa FazziRaffaele BadolatoPublished in: Orphanet journal of rare diseases (2019)
Taken together, these observations suggest CXCR4 gain of function mutations can be associated with cerebellar malformation, mild neuromotor and psychopathological dysfunction in WHIM patients.