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Immunodeficiency-centromeric instability facial anomalies (ICF) syndrome

Related genes: ZBTB24, DNMT3B, CDCA7, HELLS

Inheritance pattern: Autosomal recessive

Short for immunodeficiency-centromeric instability facial anomalies syndrome, ICF syndrome is an autosomal recessive disorder that may be due to variants in the ZBTB24, DNMT3B, CDCA7, or HELLS genes. Recurrent infections, mostly respiratory, are the usual presenting symptom, though it is also associated with mild facial dysmorphism, growth retardation, failure to thrive, and psychomotor retardation (the slowing down of thought and a reduction of physical movement). Although poor production of antibodies is most often described, some affected children also have severe cellular dysfunction, as evidenced by invasive fungal infection. T cell and B cell numbers and serum immunoglobulins are usually all low, and patients are susceptible to bacterial and opportunistic infections. Ig replacement therapy is the standard treatment. Hematopoietic stem cell transplantation (HSCT) has been curative for those with severe cellular dysfunction and may be considered in these cases.

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Learn more about combined immune deficiencies.

Other primary cellular immunodeficiencies 

Some patients with less common cellular immunodeficiencies may have severe immunodeficiency with early onset and significant morbidity and mortality, while others have only mild problems. Patients with these types of deficiencies have some defect in their T cell (cellular) immune system, resulting in a different spectrum of infection problems than those individuals with typical antibody deficiency. These include deep-seated bacterial infections, viral and fungal infections, tuberculosis, and other mycobacterial infections. Cellular immunodeficiencies are usually more difficult to treat and may need cellular reconstitution via hematopoietic stem cell transplantation or, perhaps, gene therapy.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
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