ASSESSMENT OF PERIPHERAL BLOOD MONOCYTES IN PATIENTS WITH RECURRENT MYCOBACTERIAL

单核细胞的CD40、CD80、CD86、CD120b和γ干扰素受体阿尔法链的表达水平正在被表征。这些研究已经确认了两名患有干扰素受体α链缺陷的患者，这种缺陷的分子水平正在积极检测中。此外，1例干扰素-γ受体β链缺陷患者也已在分子水平上表现出特征。作为这些研究的结果，已经开发并验证了一种用于评估STAT蛋白磷酸化的细胞内流式细胞术方法。这种方法正在研究各种激活相关蛋白的变化，似乎有助于筛查由于共同伽马链和JAK3缺陷而导致的严重联合免疫缺陷患者。

Monocytes are being characterized for the expression levels of CD40, CD80, CD86, CD120b, and the gamma interferon receptor alpha chain. These studies have identified two patients with gamma interferon receptor alpha chain deficiency, and the molecu-lar level of this defect is being actively examined. In addition, one patient with interferon gamma receptor beta chain deficiency also has been characterized at the molecular level. As a consequence of these studies, an intracellular flow cytometric method for evaluating STAT protein phosphorylation has been developed and validated. This approach is being investigated for a wide variety of activation associated protein alterations and appears to be useful in screening for patients with severe combined immunodeficiency due to defects in the common gamma chain and JAK3.