Mäkitie O, Kaitila I, Savilahti E
Hospital for Children and Adolescents, Helsinki, Finland.
J Pediatr. 2000 Oct;137(4):487-92. doi: 10.1067/mpd.2000.108102.
Cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia, is usually associated with impaired cellular immunity. This study evaluates humoral immunity in patients with CHH.
The concentrations of immunoglobulins G, A, and M (IgG, IgA, and IgM) and IgG subclasses were studied in 20 patients. Data for 5 additional patients with recurrent infections were retrospectively reviewed.
Seven of the prospectively evaluated patients (35%) had defective humoral immunity. Three patients had IgA deficiency. Four patients had IgG2 deficiency, accompanied by IgA deficiency, IgG4 deficiency, or both in 3 patients. IgG4 was low in most patients. Increased infections were usually associated with supranormal IgG and IgG1 and subnormal IgA, IgG2, or IgG4 concentrations. One retrospectively reviewed patient had severe hypogammaglobulinemia, and 3 had multiple IgG subclass deficiencies.
Humoral immunity is impaired in CHH and contributes to the increased susceptibility to infections.
软骨毛发发育不全（CHH）是一种干骺端软骨发育异常，通常与细胞免疫受损有关。本研究评估CHH患者的体液免疫。
研究了20例患者的免疫球蛋白G、A和M（IgG、IgA和IgM）浓度及IgG亚类。回顾性分析了另外5例反复感染患者的数据。
前瞻性评估的患者中有7例（35%）存在体液免疫缺陷。3例患者存在IgA缺乏。4例患者存在IgG2缺乏，其中3例同时伴有IgA缺乏、IgG4缺乏或两者皆有。大多数患者的IgG4水平较低。感染增加通常与IgG和IgG1高于正常水平以及IgA、IgG2或IgG4浓度低于正常水平有关。回顾性分析的1例患者有严重低丙种球蛋白血症，3例有多种IgG亚类缺乏。
CHH患者存在体液免疫受损，这导致其对感染的易感性增加。
