Association of kyphomelic dysplasia with severe combined immunodeficiency.
Association of kyphomelic dysplasia with severe combined immunodeficiency.
复制标题
脊柱后凸发育不良与严重联合免疫缺陷的关联。
DOI：
--
复制
发表时间：
1995
期刊：
影响因子：
--
通讯作者：
N. Wilson
中科院分区：
文献类型：
--
作者：
W. T. Corder;M. Hummel;C. Miller;N. Wilson
脊柱后突发育不良是一种独特的、罕见的骨骼发育不良，具有短成角的股骨、长骨弯曲、短肋骨、胸廓狭窄和干骺端异常。虽然免疫缺陷发生在其他身材矮小/短肢骨骼发育不良和软骨-毛发发育不全中，但尚未在脊柱后凸发育不良中描述。我们报告一个婴儿与这种疾病谁有深刻的体液和细胞免疫异常符合严重联合免疫缺陷（SCID）。婴儿在2个月大时死于压倒性巨细胞病毒肺炎。与其他身材矮小/短肢骨骼发育不良一样，脊柱后凸发育不良可能与免疫缺陷有关，当确定这种疾病时，应检查免疫功能。
Kyphomelic dysplasia is a distinct, rare, skeletal dysplasia with short angulated femora, bowing of long bones, short ribs, narrow thorax, and metaphyseal abnormalities. While immune deficiency occurs in other short stature/short-limb skeletal dysplasias and cartilage-hair hypoplasia, it has not been described with kyphomelic dysplasia. We report on an infant with this disorder who had profound humoral and cellular immunologic abnormalities consistent with severe combined immune deficiency (SCID). The infant died at age 2 months of overwhelming cytomegalovirus pneumonia. Kyphomelic dysplasia, as with other short stature/short-limb skeletal dysplasias, can be associated with immune deficiency and immune function should be investigated when this disorder is identified.