Abstract
Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome is a condition characterized by variable combined immunodeficiency, developmental delay, facial anomalies and a variety of structural chromosomal rearrangements. Recently, aberrations at the molecular level have been described consisting of alterations in the methylation pattern of classical satellite DNA. To our knowledge 15 subjects have been described so far in the literature showing marked phenotypic variability. We report on two new patients with normal development and some peculiar clinical and immunological manifestations. All patients previously reported in the literature are reviewed.
Conclusion
The identification of these two cases among our hypogammaglobulinaemic patients suggests that ICF syndrome is not a rare disorder and it should be always taken into account in immunodeficient patients with facial abnormalities.
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Abbreviations
- BrdU :
-
bromodeoxyuridine
- ICF :
-
immunodeficiency-centromeric instability-facial anomalies
- MTX :
-
methotrexate
- n.r. :
-
normal range
- PHA :
-
phytohaemagglutinin
- PWM :
-
pokeweed mitogen
References
Bauld R, Grace E, Richrds N, Ellis PM (1991) The ICF syndrome: a rare chromosome instability syndrome. J Med Genet 28:63a
Carpenter NJ, Filipovich A, Blaese RM, Carey TL, Izzet Berkel A (1988) Variable immunodeficiency with abnormal condensation of the heterochromatin of chromosomes 1,9, and 16. J Pediatr 112:757–760
Fasth A, Forestier E, Holmberg E, Holmgren G, Nordenson I, Soderstrom T, Wahlstrom J (1990) Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity> Acta Paediatr Scand 79:605–610
Fryns JP, Azou M, Jaeken J, Eggermont E, Pedersen JC, Van den Berge H (1981) Centromeric instability of chromosomes 1,9 and 16 associated with combined immunodeficiency. Hum Genet 57:108–110
Gimelli G, Varone P, Pezzolo A, Lerone M, Pistoia V (1993) ICF syndrome with variable expression in sibs. J Med Genet 30:429–432
Gimelli G, Pezzolo A, Lerone M, Varone P, Cinti R, Maraschio P, Baldi M, Perroni L, Romeo G (1994) Pattern di metilazione del DNA satellite in 3 pazienti affetti da sindrome ICF. Atti IX congresso nazionale FISME Spoleto 1994 p 155A
Haas OA (1990) Centromeric heterochromatin instability of chromosomes 1,9 and 16 in variable immunodeficiency syndrome-a virus induced phenomenon? Hum Genet 85:244–246
Howard PJ, Lewis IJ, Harris F, Walker S (1985) Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome. Clin Genet 27:501–505
Hultén M (1978) Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency. Clin Genet 14:294
Jeanpierre M, Turleau C, Aurias A, Prieur M, Ledeist F, Fischer A, Viegas-Pequignot E (1993) An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum Molec Genet 2:731–735
Kieback P, Wendisch H, Lorenz P, Hinkel K (1992) ICF-syndrome: Immunodefizienz, chromosomale Zentromerinstabilitat, faziale anomalien; Fallvorstellung und Literaturubersicht. Monatsschr Kinderheilkd 140:91–94
Maraschio P, Zuffardi O, Dalla Fior P, Tiepolo L (1988) Immunodeficiency, centromeric heterochromatin instability of chromosomes 1,9 and 16, and facial anomalies: the ICF syndrome. J Med Genet 25:173–180
Maraschio P, Tupler R, Dainotti E, Piantanida M, Cazzola G, Tiepolo L (1989) Differential expression of the ICF (Immunodeficiency. Centromeric Heterochromatin, Facial anomalies) mutation in lymphocytes and fibroblasts. J Med Genet 26:452–456
Maraschio P, Cortinovis M, Dainotti E, Tupler R, Tiepolo L (1992) Interphase cytogenetics of the ICF syndrome. Ann Hum Genet 56:273–278
Smeets DFCM, Moog U, Weemaes CMR, Vaes-Peeters G, Merks GFM, Niehof JP, Hamers G (1994) ICF syndrome: a new case and review of the literature. Hum Genet 94:240–246
Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C (1978) Concurrent instability at specific sites of chromosomes 1,9 and 16 resulting in multibranched structures. Clin Genet 14:313–314
Tiepolo L, Maraschio P, Gimelli G, Cuoco C, Gargani GF, Romano C (1979) Multibranched chromosomes 1,9 and 16 in a patient with combined IgA and IgE deficiency. Hum Genet 51:127–137
Turleau C, Cabanis MO, Girault D, Ledeist F, Mettey R, Puissant H, Prieur M, de Grouchy J (1989) Multibranched chromosomes inthe ICF syndrome: immunodeficiency, centromeric instability and facial anomalies. Am J Med Genet 32:420–424
Valkova G, Ghenev E, Tzancheva M (1987) Centromeric instability of chromosomes 1,9 and 16 with variable immune deficiency. Support of a new syndrome. Clin Genet 31:119–124
Wegner RD, Metzger M, Hanefeld F, Jaspers NGJ, Baan C, Magdorf K, Kunze J, Sperling K (1988) A new chromosomal instability disorder confirmed by complementation studies. Clin Genet 33:20–32
Weemaes CMR, Hustinx TWJ, Scheres JMJC, Van Munster PJJ, Bakkeren JAJM, Taalman RDFM (1981) A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand 70:557–564
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Franceschini, P., Martino, S., Ciocchini, M. et al. Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Eur J Pediatr 154, 840–846 (1995). https://doi.org/10.1007/BF01959794
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DOI: https://doi.org/10.1007/BF01959794