Calvo Campoverde K, Gean E, Piquer Gibert M, Martinez Valdez L, Deyà-Martínez A, Rojas Volquez M, Esteve-Sole A, Juan M, Plaza A M, Alsina L
Pediatric Allergy and Clinical Immunology Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
Clinical Genetics Department, Hospital Sant Joan de Déu-Universitat de Barcelona, Barcelona, Spain.
Allergol Immunopathol (Madr). 2016 May-Jun;44(3):257-62. doi: 10.1016/j.aller.2015.07.007. Epub 2016 Mar 2.
Primary immunodeficiencies (PID) represent a heterogeneous group of genetic disorders characterised by poor or absent function in one or more components of the immune system. Humoral or antibody immunodeficiencies are the most common form of PID, of which common variable immunodeficiency (CVID) is the most frequent symptomatic form. CVID is usually characterised by hypogammaglobulinaemia with poor antibody specificity, and an increased susceptibility to infections, autoimmunity and lymphoproliferation. Fewer than 10% of CVID patients have a known monogenic basis. Several chromosomal abnormalities (chromosome 18q-syndrome, monosomy 22, trisomy 8 and trisomy 21) are currently identified as causes of hypogammaglobulinaemia, and can manifest with recurrent infections and mimic CVID.
Review of clinical charts and laboratory results of paediatric patients followed in the outpatient clinic of PID with a diagnosis of genetic disease and humoral immunodeficiency.
Three patients with different genetic diseases (19p13.3 deletion, a ring 18 chromosome and Kabuki syndrome), were identified. During follow-up, they developed signs and symptoms suggestive of humoral deficiency mimicking CVID, despite which immunoglobulin levels were quantified with considerable delay with respect to symptoms onset, and specific management was subsequently delayed.
Patients with genetic abnormalities and recurrent infections should be evaluated for hypogammaglobulinaemia. An early diagnosis of humoral deficiency can allow treatment optimisation to prevent complications and sequelae.
原发性免疫缺陷病（PID）是一组异质性的遗传性疾病，其特征是免疫系统的一个或多个组成部分功能低下或缺失。体液或抗体免疫缺陷是PID最常见的形式，其中常见变异型免疫缺陷病（CVID）是最常见的有症状形式。CVID通常表现为低丙种球蛋白血症，抗体特异性差，且易发生感染、自身免疫和淋巴增殖。已知仅有不到10%的CVID患者有单基因病因。目前已确定几种染色体异常（18q染色体综合征、22号染色体单体、8号染色体三体和21号染色体三体）是低丙种球蛋白血症的病因，可表现为反复感染并类似CVID。
回顾在原发性免疫缺陷病门诊随访的诊断为遗传性疾病和体液免疫缺陷的儿科患者的临床病历和实验室检查结果。
确定了3例患有不同遗传性疾病的患者（19p13.3缺失、18号环状染色体和歌舞伎综合征）。在随访期间，他们出现了提示体液免疫缺陷的体征和症状，类似CVID，尽管如此，免疫球蛋白水平在症状出现后很长时间才进行定量检测，随后的具体治疗也被延迟。
对于有遗传异常和反复感染的患者，应评估是否存在低丙种球蛋白血症。早期诊断体液免疫缺陷可优化治疗，预防并发症和后遗症。
