The ICF Syndrome: New Case and Update

Overview

Journal Genet Couns

Specialties Genetics
Medical Ethics

Date 2002 Feb 12

PMID 11837609

Citations 3

Authors

T J de Ravel

E Deckers

P L Alliet

P Petit

J P Fryns

Affiliations

Soon will be listed here.

Abstract

The ICF syndrome: New case and update: We report the clinical progress in a 5-year-old boy with the <<Immunodeficiency-Centromere Instability-Facial anomalies>> (ICF) syndrome. Early diagnosis and intervention has led to a good outcome. DNMT3B mutation analysis was negative, supporting genetic heterogeneity in this condition.

Citing Articles

Genetic, Cellular and Clinical Features of ICF Syndrome: a French National Survey.

Sterlin D, Velasco G, Moshous D, Touzot F, Mahlaoui N, Fischer A J Clin Immunol. 2016; 36(2):149-59.

PMID: 26851945 DOI: 10.1007/s10875-016-0240-2.

Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst.

Cerbone M, Wang J, van der Maarel S, DAmico A, DAgostino A, Romano A Am J Med Genet A. 2012; 158A(8):2043-6.

PMID: 22786748 PMC: 3402683. DOI: 10.1002/ajmg.a.35486.

Immunodeficiency, centromeric region instability, facial anomalies syndrome (ICF).

Ehrlich M, Jackson K, Weemaes C Orphanet J Rare Dis. 2006; 1:2.

PMID: 16722602 PMC: 1459120. DOI: 10.1186/1750-1172-1-2.