{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T13:10:11Z","timestamp":1756386611655,"version":"3.44.0"},"reference-count":12,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>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\u2005weeks 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.<\/jats:p>","DOI":"10.1136\/bcr-2013-200170","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T09:58:05Z","timestamp":1375696685000},"page":"bcr2013200170","source":"Crossref","is-referenced-by-count":0,"title":["Immunodeficiency, centromeric region instability and facial anomalies (ICF) syndrome diagnosed in an adult who is now a long-term survivor"],"prefix":"10.1136","volume":"2013","author":[{"given":"Santron","family":"Sathasivam","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, High Wycombe Hospital, High Wycombe, Buckinghamshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aran","family":"Selvakumaran","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, High Wycombe Hospital, High Wycombe, Buckinghamshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quentin Christopher","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, High Wycombe Hospital, High Wycombe, Buckinghamshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher G","family":"Wathen","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, High Wycombe Hospital, High Wycombe, Buckinghamshire, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2013,8,5]]},"reference":[{"key":"2025082805313634000_2013.aug05_1.bcr2013200170.1","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1111\/j.1399-0004.1978.tb02170.x","article-title":"Selective somatic pairing and fragility at 1q12 in a boy with common variable immunodeficiency","volume":"2013","author":"Hulten","year":"1978","journal-title":"Clin Genet"},{"key":"2025082805313634000_2013.aug05_1.bcr2013200170.2","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/BF00287166","article-title":"Multibranched chromosomes 1, 9 and 16 in a patient with IgA and IgE deficiency","volume":"2013","author":"Tiepolo","year":"1979","journal-title":"Hum Genet"},{"key":"2025082805313634000_2013.aug05_1.bcr2013200170.3","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1136\/jmg.25.3.173","article-title":"Immunodeficiency, centromeric heterochromatin instability of chromosomes 1, 9, and 16, and facial anomalies: the ICF syndrome","volume":"2013","author":"Maraschio","year":"1988","journal-title":"J Med Genet"},{"doi-asserted-by":"crossref","unstructured":"Weemaes CM van Tol MJ Wang J . Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects. Eur J Hum Genet. 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