For ICF patients the most diffused therapy consists of repeated intravenous infusions of immunoglobulins for the patients entire lifespan. In 2007, Gennery et al. cured the humoral and cellular immunological defect in three ICF1 patients by hematopoietic stem cell transplantation (HSCT). The only side effect was related to the development of autoimmune phenomena in two of them. This is the only documented case of restoring the immune conditions and growth improvement in these patients.
Immunodeficiency–centromeric instability–facial anomalies syndrome
Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome
Ectrodactyly–ectodermal dysplasia–cleft syndrome
SAPHO syndrome
Kabuki syndrome
Orofaciodigital syndrome
Combined immunodeficiencies
Chromosome instability syndrome