Immunodeficiency–centromeric instability–facial anomalies syndrome (also known as ICF syndrome or immunodeficiency, centromere instability and facial anomalies syndrome) is a very rare autosomal recessive immune disorder.

Presentation

It is characterized by variable reductions in serum immunoglobulin (IgG, IgM and/or IgA) levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. Other frequent symptoms observed in individuals with ICF syndrome include intellectual disability, recurrent and prolonged respiratory infections, and integumentary and digestive system infections.

Genetics

Mutations in four genes can cause this syndrome: Cell division cycle associated protein 7 (CDCA7), DNA-methyltransferase 3b (DNMT3B), Lymphoid specific helicase (HELLS) and Zinc finger- and BTB domain containing protein 24 (ZBTB24).

The CDCA7 gene is located on chromosome 2 (2q31.1), the DNMT3B gene on chromosome 20 (20q11.2)). the HELLS gene on chromosome 10 (10q23.33), and the ZBTB24 gene on chromosome 6 (6q21).

This disease is inherited in an autosomal recessive manner. This is the only documented case of restoring the immune conditions and growth improvement in these patients.

See also

  • Bare lymphocyte syndrome
  • List of cutaneous conditions

References

  • Orphanet Journal of Rare Diseases link to ICF syndrome [http://www.ojrd.com/content/1/1/2]