快速发作性肥胖伴中枢低通气、下丘脑功能障碍、及交感神经调节失常伴神经嵴肿瘤（ROHHAD-NET）综合征的病理生理机制尚不清楚。已有研究提出获得性神经免疫功能障碍可能是可能的发病途径。本研究的目的是研究外周血淋巴细胞亚群和ROHHAD(NET)患者与对照组中一组促炎细胞因子/趋化因子，以评估其特征。我们包括了11例根据临床标准选择的ROHHAD(NET)患者，其中7例病例为ROHHAD，4例为ROHHAD-NET。对照组为11名与年龄和性别相匹配的单纯肥胖儿童。对两个组的外周血和血清样本进行了流式细胞术和酶联免疫吸附法分析。分析结果显示ROHHAD(NET)患者的T淋巴细胞显著增加（P = .04），以CD4-T细胞为主（P = .03），而激活的CD8-T细胞数量较低（P = .02）。关于调节亚群方面，患者显示出增加的调节B细胞（P = .05）和1型调节性T细胞（P = .03）。在CD8-T细胞方面，观察到T效应记忆细胞数量较低（P = .02）。相反，在CD4-T细胞中，我们发现较高数量的T naïve细胞（P = .04）和T效应细胞（P = .0008）。患者与对照组相比，白细胞介素-8（IL-8）水平和单核细胞趋化蛋白-1水平均有所增加（P = .008和P = .01，分别）。此外，ROHHAD-NET亚组（有神经肿瘤）中的IL-8水平比没有神经肿瘤的患者（ROHHAD）更高（P = .0058）。患者的可溶性HLA-G水平较对照组显著降低（P = .03）。我们的研究结果有助于支持免疫调节失常的假设，这可能是引起这种复杂、常常致命疾病的根本原因。由于ROHHAD(NET)综合征是一种超稀有病，需要多中心研究以提高我们的数据对该病管理的影响。© 2023年作者。由牛津大学出版社代表内分泌学会出版。

Rapid-onset obesity with central hypoventilation, hypothalamic dysfunction, and autonomic dysregulation with neural crest tumors (ROHHAD-NET) syndrome pathophysiology remains elusive. Acquired neuroimmunological dysfunction has been proposed as a possible pathogenetic pathway.The aim of our study was to characterize lymphocyte subpopulations subsets in peripheral blood (PB) and to evaluate a panel of proinflammatory cytokines/chemokines in ROHHAD(NET) patients vs controls.We included 11 ROHHAD(NET) patients, 7 ROHHAD and 4 ROHHAD-NET, selected by clinical criteria. Controls were 11 simple obese children, matched for age and sex. Flow cytometric analysis and enzyme-linked immunosorbent assay were performed on PB and serum samples of the 2 groups.Analysis revealed that T lymphocytes are significantly increased in ROHHAD(NET) patients (P = .04) with a prevalence of CD4-T cells (P = .03) and a lower number of activated CD8-T cells (P = .02). With regard to regulatory subset, patients displayed increased regulatory B cells (P = .05) and type-1 regulatory T cells (P = .03). With regard to CD8-T cells, a lower number of T effector memory was observed (P = .02). In contrast, among CD4-T cells, we found a higher number of T naive (P = .04) and T effector (P = .0008). Interleukin-8 (IL-8) levels and monocyte chemotactic protein-1 were increased in patients vs controls (P = .008 and P = .01, respectively). Furthermore, IL-8 levels were higher in the subgroup with neural tumor (P = .0058) (ROHHAD-NET) than in patients without neural tumor (ROHHAD). Soluble HLA-G was significantly lower in patients vs controls (P = .03).Our findings contribute to support the hypothesis of immune dysregulation, which may underlie this complex, often fatal disease. Because ROHHAD(NET) syndrome is an ultra-rare disease, multicentric studies are needed to improve the effect of our data in the management of this condition.© The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society.