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🔗 CustomizeMedical Overview of Centromeric Instability Of Chromosomes 1,9 And 16 And Immunodeficiency
Sources citedA rare autosomal recessive syndrome with combined immunodeficiency characterized by the clinical triad of immunodeficiency, centromeric instability and facial anomalies (abbreviated ICF syndrome). The immunodeficiency is with panhypogammaglobulinemia, and a lack of memory (CD19+CD27+) B cells in the peripheral blood, although B and T-cell counts are normal. Anomalies and rearrangements associated with DNA hypomethylation in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9, in mitogen-stimulated lymphocytes, is a hallmark of the syndrome. The typical facial anomalies include hypertelorism, low-set ears, epicanthus and macroglossia.
Classification & codes: GARD 0002945 · Orphanet ORPHA:2268 · OMIM 242860 · ICD-10 D84.8
Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.
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Sources: GARD (NIH/NCATS), Orphanet · last reviewed 2026. Educational only — not medical advice.