Sathasivam Santron, Selvakumaran Aran, Jones Quentin Christopher, Wathen Christopher G
Department of Respiratory Medicine, High Wycombe Hospital, High Wycombe, Buckinghamshire, UK.
BMJ Case Rep. 2013 Aug 5;2013:bcr2013200170. doi: 10.1136/bcr-2013-200170.
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.
我们描述了一名42岁的英属印度加勒比裔男子，患有免疫缺陷、着丝粒区域不稳定和面部异常（ICF）综合征。大多数ICF综合征患者在年轻时死于感染，通常在生命的第一个或第二个十年。该患者早产3.5周，父母非近亲结婚。他有轻度的鸟脸样异常，但没有其他先天性畸形、认知障碍或发育迟缓。他童年时反复出现耳部和胸部感染，并发展为支气管扩张。检查发现IgG、IgA和IgM缺乏，淋巴细胞计数正常，T细胞对体外有丝分裂原刺激的增殖正常。在童年时期多次诊断失败后，最近的染色体分析显示1号和16号染色体着丝粒区域不稳定，诊断为ICF综合征。该患者因低丙种球蛋白血症接受免疫球蛋白替代治疗，并因支气管扩张接受胸部物理治疗和抗生素治疗。最近，他出现了原因不明的肝硬化。
