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Article

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

Orphanet journal of rare diseases - 1 Mar 2006

Ehrlich Melanie, Jackson Kelly, Weemaes Corry

Abstract excerpt

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease described in about 50 patients worldwide and characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. Other variable symptoms of...

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Identifiers

PMID: 16722602
DOI: 10.1186/1750-1172-1-2
PMCID: PMC1459120

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Source receipt: pubmed, retrieved 7 Sept 2026.

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