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...
References
Ehrlich M, Jackson K, Weemaes C. Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF). Orphanet J Rare Dis. 2006;1:2. https://doi.org/10.1186/1750-1172-1-2.
Hagleitner MM, Lankester A, Maraschio P, Hultén M, Fryns JP, Schuetz C, Gimelli G, Davies EG, Gennery A, Belohradsky BH, de Groot R, Gerritsen EJA, Mattina T, Howard PJ, Fasth A, Reisli I, Furthner D, Slatter MA, Cant AJ, Cazzola G, van Dijken PJ, van Deuren M, de Greef JC, van der Maarel SM, Weemaes CMR. Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome). J Med Genet. 2008; 45:93–9. https://doi.org/10.1136/jmg.2007.053397.
Maraschio P, Zuffardi O, Dalla Fior T, Tiepolo L. Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome. J Med Genet. 1988;25:173–80.
Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A, Suarez F, Francastel C, Picard C. Genetic, cellular and clinical features of ICF syndrome: a French national survey. J Clin Immunol. 2016;36:149–59. https://doi.org/10.1007/s10875-016-0240-2.
van den Boogaard ML, Thijssen PE, Aytekin C, Licciardi F, Kıykım AA, Spossito L, Dalm VASH, Driessen GJ, Kersseboom R, de Vries FE, van Ostaijen-ten Dam MM, Ikinciogullari A, Dogu F, Oleastro M, Bailardo E, Daxinger L, Nain E, Baris S, van Tol MJD, Weemaes C, van der Maarel SM. Expanding the mutation spectrum in ICF syndrome: evidence for a gender bias in ICF2. Clin Genet. 2017;92:380–7.
Velasco G, Walton EL, Sterlin D, Hédouin S, Nitta H, Ito Y, Fouyssac F, Mégarbané A, Sasaki H, Picard C, Francastel C. Germline genes hypomethylation and expression define a molecular signature in peripheral blood of ICF patients: implications for diagnosis and etiology. Orphanet J Rare Dis. 2014;9:56.
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Goda, V. (2019). Immunodeficiency, Centromeric Instability, and Facial Dysmorphism (ICF Syndrome) (ICF1-DNMT3B, ICF-2 ZBTB24). In: MacKay, I., Rose, N. (eds) Encyclopedia of Medical Immunology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-9209-2_187-1
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DOI: https://doi.org/10.1007/978-1-4614-9209-2_187-1
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