背景:遗传性ARPC1B缺乏症的临床特征是耳朵,皮肤,和肺部感染,出血,湿疹,食物过敏,哮喘,皮肤血管炎,结肠炎,关节炎,身材矮小,和淋巴结病。
目的:我们旨在描述临床,实验室,以及来自四个墨西哥家庭的另外六名患者的遗传特征。
方法:我们对四个疑似放线病家庭的患者进行了外显子组测序,从医疗记录中收集数据,并回顾了其他有关ARPC1B缺乏患者的报道。
结果:纳入4个家庭的6名患者。都有反复感染,主要是细菌性肺炎,和蜂窝织炎。67%有湿疹,50%的人有食物过敏,未能茁壮成长,肝肿大,和出血。所有人都发现了嗜酸性粒细胞增多症,84%的血小板减少症,67%异常大小的血小板,和贫血。血清IgG水平,IgA,大多数IgE高度升高;IgM正常或低。67%的患者T细胞减少,而一半患者的B细胞和NK细胞增加。四个先证者中的两个具有复合杂合变体。一名患者成功移植。我们确定了28例其他最常见的特征是湿疹的患者,反复感染,未能茁壮成长,出血,腹泻,过敏,血管炎,嗜酸性粒细胞增多,血小板异常,高IgE/IgA,低T细胞,高B细胞
结论:ARPC1B缺乏症具有可变且异质性的临床谱,这些病例扩大到包括瘢痕疙瘩疤痕和爱泼斯坦-巴尔病毒慢性肝炎。外显子8中的新删除由三个不相关的家庭共享,可能是创始人效应的结果。
Hereditary actin-related protein 2/3 complex subunit 1B deficiency is characterized clinically by ear, skin, and lung infections, bleeding, eczema, food allergy, asthma, skin vasculitis, colitis, arthritis, short stature, and lymphadenopathy.
We aimed to describe the clinical, laboratory, and genetic features of six patients from four Mexican families.
We performed exome sequencing in patients of four families with suspected actinopathy, collected their data from medical records, and reviewed the literature for reports of other patients with actin-related protein 2/3 complex subunit 1B deficiency.
Six patients from four families were included. All had recurrent infections, mainly bacterial pneumonia, and cellulitis. A total of 67% had eczema whereas 50% had food allergies, failure to thrive, hepatomegaly, and bleeding. Eosinophilia was found in all; 84% had thrombocytopenia, 67% had abnormal-size platelets and anemia. Serum levels of IgG, IgA, and IgE were highly increased in most; IgM was normal or low. T cells were decreased in 67% of patients, whereas B and NK cells were increased in half of patients. Two of the four probands had compound heterozygous variants. One patient was successfully transplanted. We identified 28 other patients whose most prevalent features were eczema, recurrent infections, failure to thrive, bleeding, diarrhea, allergies, vasculitis, eosinophilia, platelet abnormalities, high IgE/IgA, low T cells, and high B cells.
Actin-related protein 2/3 complex subunit 1B deficiency has a variable and heterogeneous clinical spectrum, expanded by these cases to include keloid scars and Epstein-Barr virus chronic hepatitis. A novel deletion in exon 8 was shared by three unrelated families and might be the result of a founder effect.