Llobet M Pilar, Soler-Palacin Pere, Detkova Drahomira, Hernández Manuel, Caragol Isabel, Espanol Teresa
Paediatric Immunodeficiencies and Immunology Units, Vall d'Hebron Hospital, Barcelona, Spain.
Pediatr Allergy Immunol. 2009 Mar;20(2):113-8. doi: 10.1111/j.1399-3038.2008.00744.x. Epub 2008 Sep 15.
Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. It can present at any age in patients with a history of recurrent bacterial infections, with or without a family history of other primary immunodeficiencies (PID), and shows a wide range of clinical manifestations and immunological data. Diagnosis is based on low IgG, IgM and/or IgA levels. Delayed diagnosis and therapy can lead to bronchiectasis and malabsorption. The aim of this study was to describe a paediatric population diagnosed of CVID and its evolution in the population. Memory B-cell (MB) classification carried out in these patients was correlated with clinical manifestations and outcome. Clinical and immunological data of 22 CVID children under 18 yr treated at our centre between 1985 and 2005 are presented. Immunological studies included those for diagnosis and MB quantification. Differences in form of presentation, familial incidence and MB classification were reviewed. A statistical descriptive analysis was made. Infections were the commonest manifestation, affecting mainly respiratory (19/22) and gastrointestinal (10/22) tracts. Bronchiectasis was present in seven cases, and detected prior to CVID diagnosis in five. Replacement therapy led to a significant reduction in the number of infections. Severe complications appeared mostly in patients without MB. Patients of the same family share the same MB group. Family members had also been diagnosed of CVID in seven cases. Early diagnosis and therapy are essential to improve outcome in these patients. MB studies are useful in children to orient prognosis and further genetic studies.
普通变异型免疫缺陷（CVID）是最常见的有症状的原发性免疫缺陷病。它可在任何年龄出现，患者有反复细菌感染史，有无其他原发性免疫缺陷（PID）家族史均可，且临床表现和免疫学数据范围广泛。诊断基于低IgG、IgM和/或IgA水平。诊断和治疗延迟可导致支气管扩张和吸收不良。本研究的目的是描述诊断为CVID的儿科人群及其在该人群中的病情演变。对这些患者进行的记忆B细胞（MB）分类与临床表现和预后相关。本文介绍了1985年至2005年在我们中心接受治疗的22例18岁以下CVID儿童的临床和免疫学数据。免疫学研究包括诊断研究和MB定量。回顾了表现形式、家族发病率和MB分类的差异。进行了统计描述性分析。感染是最常见的表现，主要影响呼吸道（19/22）和胃肠道（10/22）。7例出现支气管扩张，其中5例在CVID诊断前被检测到。替代疗法使感染次数显著减少。严重并发症大多出现在无MB的患者中。同一家族的患者属于同一MB组。7例家庭成员也被诊断为CVID。早期诊断和治疗对改善这些患者的预后至关重要。MB研究对儿童判断预后和进一步的遗传学研究有用。
