Urriola Nicolás, Williams Andrew, Keat Karuna
Immunology, Campbelltown Hospital, Campbelltown, New South Wales, Australia.
Immunopathology, Children's Hospital at Westmead, Westmead, New South Wales, Australia.
BMJ Case Rep. 2019 Aug 30;12(8):e230434. doi: 10.1136/bcr-2019-230434.
X-linked carriers of chronic granulomatous disease (CGD) may become phenotypically affected if substantial skewing from lyonisation occurs. We describe a 73-year-old female carrier with an overt CGD phenotype due to skewed lyonisation, complicated by macrophage activation syndrome (MAS)/haemophagocytic lymphohistiocytosis (HLH) secondary to complex septicaemia that was successfully treated with a combination of three antibiotics, an antifungal, granulocyte colony stimulating factor, intravenous immune globulin (IVIG) and ciclosporin. Fully phenotypic immunodeficiency is possible in X-linked CGD carriers when skewed lyonisation occurs, rendering such patients to all the same sequelae of CGD such as MAS/HLH. MAS/HLH should be thoroughly excluded when evaluating 'cepacia syndrome' in non-CGD patients.
如果莱昂化出现显著偏斜，X连锁慢性肉芽肿病（CGD）的携带者可能会出现表型受累。我们描述了一名73岁的女性携带者，由于莱昂化偏斜而具有明显的CGD表型，并因复杂败血症继发巨噬细胞活化综合征（MAS）/噬血细胞性淋巴组织细胞增生症（HLH），通过联合使用三种抗生素、一种抗真菌药、粒细胞集落刺激因子、静脉注射免疫球蛋白（IVIG）和环孢素成功治疗。当发生莱昂化偏斜时，X连锁CGD携带者可能出现完全表型免疫缺陷，使这类患者出现与CGD相同的所有后遗症，如MAS/HLH。在评估非CGD患者的“洋葱伯克霍尔德菌综合征”时，应彻底排除MAS/HLH。
