Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome identified by whole-exome sequencing...

Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare genetic autosomal recessive disorder that results in impaired immune system function, instability of the centromeric region of chromosomes, and distinct facial features. This is the first case report of ICF in Palestine.

A male child with recurrent respiratory tract infections, ear discharge and facial anomalies. Whole-exome sequencing was performed. A homozygous missense variant DNMT3B was identified, and the patient was diagnosed with ICF and was managed successfully with intravenous immunoglobulins.

ICF syndrome is a rare genetic disorder that affects the immune system. It has three common symptoms which are present in most cases. Treatments like immunoglobulin supplementation or allogeneic stem cell transplantation can improve the chances of survival and enhance the quality of life.