immunodeficiency-centromeric instability-facial anomalies syndrome https://www.malacards.org/card/immunodeficiency_centromeric_instability_facial_anomalies_syndrome MESH:C537362 UMLS:C0398788 MEDGEN:140770 Orphanet:2268 The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease 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. immunodeficiency-centromeric instability-facial anomalies syndrome OMIMPS:242860 SCTID:234633000 CIID MONDO:0000133 NANDO:1200334 DOID:0090007 GARD:0002945 NANDO:2200708 immunodeficiency-centromeric instability-facial anomalies autosomal recessive disease telomere syndrome