Document Detail


Variability of clinical and immunological phenotype in immunodeficiency-centromeric instability-facial anomalies syndrome. Report of two new patients and review of the literature.
MedLine Citation:
PMID:  8529685     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
P Franceschini; S Martino; M Ciocchini; E Ciuti; M P Vardeu; A Guala; F Signorile; P Camerano; D Franceschini; P A Tovo
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  European journal of pediatrics     Volume:  154     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1995 Oct 
Date Detail:
Created Date:  1996-01-29     Completed Date:  1996-01-29     Revised Date:  2005-11-16    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  840-6     Citation Subset:  IM    
Affiliation:
Istituto di Discipline Pediatriche, Università di Torino, Italy.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics
Centromere / genetics*
Child
Chromosome Aberrations / genetics*
Chromosome Disorders
Chromosome Mapping
Facial Bones / abnormalities*
Humans
Male
Phenotype*
Severe Combined Immunodeficiency / diagnosis,  genetics*
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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