Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.
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.
Istituto di Discipline Pediatriche, Università di Torino, Italy.
P
P
Franceschini
S
S
Martino
M
M
Ciocchini
E
E
Ciuti
M P
MP
Vardeu
A
A
Guala
F
F
Signorile
P
P
Camerano
D
D
Franceschini
P A
PA
Tovo
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D002503:Centromere / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008297:Male; D010641:Phenotype; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome