Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Immunodeficiency, Centromeric Instability, and Facial Dysmorphism (ICF Syndrome) (ICF1-DNMT3B, ICF-2 ZBTB24)

  • Vera GodaEmail author
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_187-1

Synonyms

Definition

Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF) is a rare autosomal recessive (AR) primary immunodeficiency (PID) characterized by a profound hypogammaglobulinemia with characteristic rearrangements in the proximity of the centromeres of chromosomes 1, 16, and occasionally 9 in mitogen-stimulated lymphocytes. Other variable symptoms include characteristic facial dysmorphism, growth retardation, failure to thrive, and mental retardation. The main immunological defect is the lack of CD19+CD27+ memory B cells while B cells are usually present. Serum immunoglobulins are variably low. There are limited data on T-cell function; however, in reported cases T cell function is severely impaired. These patients suffer mainly from recurrent or chronic bacterial respiratory infections as presenting symptoms. Bronchiectasis, gastrointestinal and skin infections are also common from early childhood. According to the...

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References

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Pediatric Hematology and Stem Cell Transplantation DepartmentSouth-Pest Central Hospital, United Szent Istvan and Szent Laszlo Hospital BudapestBudapestHungary

Section editors and affiliations

  • Jolan Walter
    • 1
  1. 1.USF HealthTampaUSA