title: Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor.
abstract: We describe a 42-year-old British man of Indo-Caribbean origin with immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome. Most patients with ICF syndrome die of infection at a young age, usually in the first or second decade of life. The patient was born 3.5 weeks premature to non-consanguineous parents. He had a mild bird-like face abnormality, but had no other congenital malformations, cognitive impairment or developmental delays. He had recurrent ear and chest infections during childhood and developed bronchiectasis. Investigations revealed IgG, IgA and IgM deficiencies with a normal lymphocyte count and normal T cell proliferation to in vitro mitogenic stimulation. Following several unsuccessful attempts to make a diagnosis during childhood, a recent chromosomal analysis showed centromeric region instability of chromosomes 1 and 16, diagnosing ICF syndrome. The patient receives immunoglobulin replacement for hypogammaglobulinameia and has chest physiotherapy and antibiotics for bronchiectasis. Recently, he developed liver cirrhosis of unknown cause.
authors.affiliation: Department of Respiratory Medicine, High Wycombe Hospital, High Wycombe, Buckinghamshire, UK.
authors.forename: Santron
authors.initials: S
authors.lastname: Sathasivam
authors.forename: Aran
authors.initials: A
authors.lastname: Selvakumaran
authors.forename: Quentin Christopher
authors.initials: QC
authors.lastname: Jones
authors.forename: Christopher G
authors.initials: CG
authors.lastname: Wathen
mesh_terms: D000328:Adult; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis; D008297:Male; D000081207:Primary Immunodeficiency Diseases; D017741:Survivors
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