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首页> 外文期刊>Clinical immunology: The official journal of the Clinical Immunology Society >Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.
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Severe combined immunodeficiency associated with nephrogenic diabetes insipidus and a deletion in the Xq28 region.

机译：与肾原性尿崩症和Xq28区缺失相关的严重联合免疫缺陷。

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We evaluated a baby boy with severe combined immunodeficiency (SCID) and X-linked nephrogenic diabetes insipidus (NDI). This patient had less than 10% CD3+ T cells, almost all of which were positive for CD4 and CD45RO. Genetic studies demonstrated a 34.4 kb deletion at Xq28 which included AVPR2, the gene responsible for NDI; ARHGAP4, a hematopoietic specific gene encoding a GTPase-activating protein; and a highly conserved segment of DNA between ARHGAP4 and ARD1A, a gene involved in the response to hypoxia. Other patients with NDI, but without immunodeficiency, have had deletions that remove all ARHGAP4 except exon 1; however, no other patients have had deletions of the highly conserved intragenic region between ARHGAP4 and ARD1A. X chromosome inactivation studies, done on sorted cells from the mother and grandmother of the patient, carriers of the deletion, demonstrated exclusive use of the non-mutant X chromosome as the active X in CD4 and CD8 T cells. Surprisingly, NK cells, monocytes and neutrophils from these women demonstrated preferential use of the mutant X chromosome as the active X. These results are consistent with an X-linked form of SCID, due to the loss of regulatory elements that control the response to hypoxia in hematopoietic cells.
机译：我们评估了患有严重的联合免疫缺陷（SCID）和X连锁性肾病性尿崩症（NDI）的男婴。该患者的CD3 + T细胞少于10％，几乎所有CD4和CD45RO阳性。遗传研究表明，Xq28处34.4 kb的缺失，其中包括负责NDI的基因AVPR2。 ARHGAP4，一种编码GTPase激活蛋白的造血特异性基因;以及在ARHGAP4和ARD1A之间的高度保守的DNA片段，该基因涉及对缺氧的反应。其他患有NDI但无免疫缺陷的患者，其缺失可去除除外显子1外的所有ARHGAP4。但是，没有其他患者的ARHGAP4和ARD1A之间高度保守的基因内区域缺失。 X染色体失活研究是在患者母亲和祖母的分类细胞上进行的，该细胞是缺失的携带者，它证明了将非突变X染色体作为CD4和CD8 T细胞中的活性X的唯一用途。出人意料的是，这些妇女的NK细胞，单核细胞和中性粒细胞显示出优先使用突变X染色体作为活性X。这些结果与SCID的X连锁形式相符，因为失去了控制对缺氧反应的调节因子。在造血细胞中。

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