sarcoid-like reaction

类肉瘤样反应
  • 文章类型: Journal Article
    免疫检查点抑制剂已经深刻地改变了癌症治疗,改善许多肿瘤患者的预后。然而,尽管这些药物有很好的疗效,他们的作用机制,涉及免疫系统的激活,可能导致免疫相关的不良事件,这可能会影响几乎所有的器官。肺部不良事件相对常见,和潜在的危及生命的并发症可能发生。由于临床和放射学表现的广谱和非特异性,诊断具有挑战性。放射科医生的作用是识别和诊断肺部免疫相关的不良事件,甚至可能在早期阶段,估计其程度并指导患者管理。
    Immune-checkpoint inhibitors have profoundly changed cancer treatment, improving the prognosis of many oncologic patients. However, despite the good efficacy of these drugs, their mechanism of action, which involves the activation of the immune system, can lead to immune-related adverse events, which may affect almost all organs. Pulmonary adverse events are relatively common, and potentially life-threatening complications may occur. The diagnosis is challenging due to the wide and non-specific spectrum of clinical and radiological manifestations. The role of the radiologist is to recognize and diagnose pulmonary immune-related adverse events, possibly even in the early stages, to estimate their extent and guide patients\' management.
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  • 文章类型: Case Reports
    结节病样反应(SLR)是某些免疫疗法和恶性肿瘤继发的局部非干酪样上皮样肉芽肿反应。侵袭性黑色素瘤,虽然与结节病的发作有关,在文献中没有显示出直接诱导SLR。我们介绍了一个68岁男性恶性黑色素瘤的病例,在开始免疫疗法之前被发现患有SLR,在pembrolizumab上恶化。这个案例凸显了区分药物诱导的SLR和黑色素瘤诱导的SLR的挑战。以及管理方面的影响。
    Sarcoid Like Reaction (SLR) is a localized non-caseating epithelioid granulomatous reaction seen secondary to certain immunotherapies and malignancies. Invasive melanoma, while being associated with onset of sarcoidosis, has not shown to directly induce SLR in the literature. We present the case of a 68-year-old male with malignant melanoma, who was found to have SLR prior to starting immunotherapy, which worsened while on pembrolizumab. This case highlights the challenge of distinguishing between drug-induced SLR and melanoma-induced SLR, and the implications in terms of management.
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  • 文章类型: Case Reports
    冠状病毒病(COVID-19)相关的急性心包炎最近因其与心包填塞(PT)相关的高频率而备受关注,显示预后不良。然而,在非特异性体征和症状的病例中,早期诊断和治疗仍然具有挑战性.
    一名64岁男子因急性脚趾骨髓炎入院,并接受了抗菌药物治疗。入院三天后,患者出现轻度COVID-19,无肺炎,为此启动了早期抗COVID-19药物。然而,2周后,患者因急性心包炎而出现出血性PT,心脏磁共振证实了这一点,需要紧急心包穿刺术.尽管对出血性心包液的细胞学分析强烈提示腺癌,非典型细胞最终被证明是具有反应性异型性的间皮细胞。此外,影像学上2-[18F]-氟-2-脱氧-D-葡萄糖异常积聚的淋巴结肿大提示恶性肿瘤。然而,活检显示淋巴结有多个非干酪样肉芽肿,不太可能是由于恶性肿瘤。最终,之前的COVID-19与亚急性PT发生的时间关联没有其他可识别的原因,导致最终诊断为COVID-19相关性急性心包炎.抗炎和皮质类固醇治疗,患者的症状涉及心包结构和功能,随着受影响的淋巴结肿大的改善,完全缓解。
    我们遇到一例COVID-19相关性急性心包炎,表现出血性PT的独特病例。该病例强调了即使在接受早期治疗的轻度COVID-19患者中,迟发性心包受累的残余风险,并认识到COVID-19可能引起各种细胞形态学和组织学特征。此外,应强调将这种罕见实体视为出血性心包积液的原因的重要性.
    UNASSIGNED: Coronavirus disease (COVID-19)-associated acute pericarditis has recently received much attention owing to its high frequency associated with pericardial tamponade (PT), showing unfavorable prognosis. However, early diagnosis and treatment remain challenging in cases of non-specific signs and symptoms.
    UNASSIGNED: A 64-year-old man was admitted to our hospital for acute osteomyelitis of the toes and was properly treated with antimicrobial agents. Three days after admission, the patient developed mild COVID-19 without pneumonia, for which early anti-COVID-19 agents were initiated. Nevertheless, the patient developed hemorrhagic PT due to acute pericarditis 2 weeks later, which was confirmed by cardiac magnetic resonance, requiring an urgent pericardiocentesis. Although cytological analysis of the hemorrhagic pericardial fluid strongly suggested adenocarcinoma, the atypical cells were eventually proven to be mesothelial cells with reactive atypia. Furthermore, lymph nodes swelling with abnormal 2-[18F]-fluoro-2-deoxy-D-glucose accumulation on imaging were suggestive of malignancy. However, biopsy examination revealed multiple non-caseating granulomas in the lymph node, unlikely due to malignancy. Eventually, the temporal association of the preceding COVID-19 with the occurrence of subacute PT without other identifiable cause led to a final diagnosis of COVID-19-associated acute pericarditis. With anti-inflammatory and corticosteroids treatment, the patient\'s symptoms involving the pericardial structure and function were completely resolved along with improvements in size of the affected lymphadenopathies.
    UNASSIGNED: We encountered a unique case of COVID-19-associated acute pericarditis exhibiting hemorrhagic PT. This case underscores the residual risk of delayed pericardial involvement even in patients with mild COVID-19 who receive early treatment, and the recognition that COVID-19 may cause various cytomorphological and histological features. Additionally, the importance of considering this rare entity as a cause of hemorrhagic pericardial effusions should be highlighted.
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  • 文章类型: Case Reports
    结节病样肉芽肿性炎症(SLGI)定义为不符合系统性结节病标准的患者发生非坏死性上皮样肉芽肿。已知它的发生与不同的条件有关,包括恶性肿瘤,感染,使用某些药物和无机物。据我们所知,迄今为止,现有文献缺乏关于副神经节瘤中SLGI的任何描述.本研究描述了颈动脉体副神经节瘤(CBP)中SLGI的第一例。一名54岁的女性患者出现前颈部肿胀27年,没有任何其他症状。超声检查显示胸骨后延伸的多结节性甲状腺肿和颈部右侧40x30x22mm的实性病变,这暗示了CBP。病人接受了甲状腺全切除术,通过另一个纵向切口切除右侧宫颈肿块。甲状腺标本的组织病理学检查显示了多结节性甲状腺肿的发现。右侧宫颈肿块的切片证实诊断为CBP伴多发,形状良好,中小型,与多核巨细胞相关的非坏死性上皮样肉芽肿,指示SLGI。非坏死性上皮样细胞肉芽肿(如SLGI),与结节病中观察到的相同,可能很少在不符合系统性结节病标准的患者中观察到;然而,已观察到它们与各种肿瘤有关。因此,将它们与实际的结节病区分开来至关重要,因为误诊可能会导致严重的后果。伴随副神经节瘤的SLGI的存在是极其罕见的现象。由于这个原因,很难断定它是否能提供更好的预后。
    Sarcoid-like granulomatous inflammation (SLGI) is defined as the development of non-necrotizing epithelioid granulomas in patients who do not meet the criteria for systemic sarcoidosis. Its occurrence is known to be linked to diverse conditions, including malignancies, infections, the use of certain drugs and inorganic substances. To the best of our knowledge, the available literature to date lacks any description regarding SLGI in a paraganglioma. The present study describes the first case of SLGI in a carotid body paraganglioma (CBP). A 54-year-old female patient presented with anterior neck swelling for 27 years without any other symptoms. An ultrasonography revealed a multinodular goiter with retrosternal extension and a solid lesion on the right side of the neck measuring 40x30x22 mm, which was suggestive of a CBP. The patient underwent a total thyroidectomy, and the right-side cervical mass was resected via another longitudinal incision. A histopathological examination of the thyroid specimen revealed findings of a multinodular goiter. Sections from the right-side cervical mass confirmed the diagnosis of CBP accompanied by multiple, well-formed, small-medium sized, non-necrotizing epithelioid granulomas associated with multinucleated giant cells, indicative of SLGI. Non-necrotizing epithelioid cell granulomas (as with SLGIs), identical to those observed in sarcoidosis, may rarely be observed in patients who do not meet the criteria of systemic sarcoidosis; however, they have been observed in association with various neoplasms. It is thus crucial to distinguish them from actual sarcoidosis, as misdiagnoses may lead to severe consequences. The presence of SLGIs accompanying a paraganglioma is an extremely rare phenomenon. Due to this, it is difficult to conclude if it confers a better prognosis or not.
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  • 文章类型: Case Reports
    背景:药物诱导的结节病样反应(DISR)在临床和病理上与结节病相似,但由某些药物诱导。文献中已经报道了一些与使用TNF-α拮抗剂相关的DISR病例。
    方法:一名49岁女性患者,诊断为克罗恩病,正在接受阿达木单抗治疗,左下穹窿出现2个月长的溃疡性肿胀。活检标本的组织学分析显示,多个非干酪样肉芽肿多核细胞和被淋巴细胞包围的上皮样巨噬细胞。病变在局部皮质类固醇的症状控制下,并且正在监测患者在其他器官和系统中的表现。
    结论:DISR的病变可能在口腔粘膜中孤立发生。因此,在接受抗TNF-α药物治疗的患者的口腔肉芽肿性病变的鉴别诊断中,必须考虑这种并发症。
    BACKGROUND: The drug-induced sarcoidosis-like reaction (DISR) is a condition clinically and pathologically similar to sarcoidosis but is induced by certain drugs. A few cases of DISR associated with the use of TNF-α antagonists have been reported in the literature.
    METHODS: A 49-year-old female patient with a diagnosis of Crohn\'s Disease under treatment with adalimumab presented with a 2-month-long ulcerated swelling in the left lower fornix. Histological analysis of the biopsy specimen revealed multiple non-caseating granulomas multinucleated cells and epithelioid macrophages surrounded by lymphocytes. The lesion is under symptomatic control with a topical corticosteroid, and the patient is being monitored for manifestation in other organs and systems.
    CONCLUSIONS: Lesions of DISR may occur isolated in the oral mucosa. Therefore, this complication must be considered in the differential diagnosis of oral granulomatous lesions in patients under treatment with anti-TNF-α drugs.
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  • 文章类型: Journal Article
    背景:乳腺癌患者在纵隔或腋下伴有淋巴结肿大,包括非干酪性上皮样细胞肉芽肿,称为结节病或结节病样反应(SLR)。然而,结节病/SLR的患病率和临床表现仍不清楚。本研究旨在确定乳腺癌术后患者结节病/SLR的发生率和临床表现。
    方法:在2010年至2021年期间在日本圣卢克国际医院接受早期乳腺癌手术的所有患者中,随后出现纵隔淋巴结肿大和支气管镜检查怀疑乳腺癌复发的患者被包括在内。患者分为结节病/SLR或转移性乳腺癌组,并对其临床特点进行比较。
    结果:共有9,559例患者行乳腺癌手术,29例患者行支气管镜检查诊断为纵隔淋巴结肿大。20例乳腺癌复发。八名妇女的中位年龄为49岁(范围38-75),从手术到诊断的中位时间为4.0年(范围0.2-10.8)被诊断为结节病/SLR。八名患者中有四名接受了硅胶乳房植入物(SBI)的乳房成形术,和两个经历了乳腺癌术后复发之前或之后淋巴结肿大,这被认为是SLR的煽动因素。其余两个病例可能在乳腺癌手术后发生结节病,没有潜在的SLR原因。
    结论:乳腺癌患者很少发生术后结节病/SLR。SBI的辅助作用可能有助于SLR的进展;少数病例表现出与乳腺癌复发的因果关系。
    BACKGROUND: Patients with breast cancer present with lymphadenopathy involving non-caseating epithelioid cell granulomas in the mediastinum or axilla, referred to as sarcoidosis or sarcoid-like reactions (SLRs). However, sarcoidosis/SLRs prevalence and clinical presentation remain unclear. This study aimed to determine the frequency and clinical presentation of sarcoidosis/SLRs among postoperative patients with breast cancer.
    METHODS: Among all patients who underwent surgery for early-stage breast cancer at St. Luke\'s International Hospital in Japan between 2010 and 2021, those who subsequently developed enlarged mediastinal lymph nodes and underwent bronchoscopy for suspected breast cancer recurrence were included. Patients were classified into sarcoidosis/SLR or metastatic breast cancer groups, and the clinical characteristics were compared.
    RESULTS: A total of 9,559 patients underwent breast cancer surgery; bronchoscopy was performed to diagnose enlarged mediastinal lymph nodes in 29 cases. Breast cancer recurrence was observed in 20 patients. Eight women with a median age of 49 years (range 38-75) and a median time from surgery to diagnosis of 4.0 years (range 0.2-10.8) were diagnosed with sarcoidosis/SLRs. Four of the eight patients underwent mammoplasty with silicone breast implants (SBIs), and two experienced postoperative recurrences of breast cancer before or after lymphadenopathy, which was considered inciting factors for SLRs. The remaining two cases could have developed sarcoidosis after breast cancer surgery with no underlying causes for SLR.
    CONCLUSIONS: Postoperative sarcoidosis/SLRs rarely occur in patients with breast cancer. An adjuvant action of SBI likely contributed to the progression of SLRs; few cases exhibited a causal relationship with breast cancer recurrence.
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  • 文章类型: Case Reports
    这种情况代表了一个年轻男性的令人印象深刻的发现,他出现了皮肤结节病样反应,其次是纹身墨水。结节病的皮肤表现可以以各种方式呈现,是由不同的诱导因素引起的,并且可能不仅出现在皮肤上,而且是系统性结节病的许多发现之一。一位24岁的黑人绅士出现在皮肤科诊所,他的纹身中出现丘疹,覆盖了他的大部分身体。患者尝试了低过敏性纹身墨水,看看这是否可以防止这些肿块的形成;但是,这只会进一步引发这些丘疹局限于纹身区域的产生。皮肤发现显示,在患者躯干上有纹身墨水的区域,连续出现线性凸起的丘疹,双侧胳膊和腿,和脸。在介绍时,他否认有任何宪法,肺,或眼科症状。病理结果显示,肉瘤样肉芽肿性皮炎显示结节性非坏死性肉芽肿性炎症浸润,涉及浅层和深层真皮。然后通过肺科对患者进行评估,以排除结节病的任何全身性发现,胸部X光显示为阴性.患者开始口服泼尼松和外用吡美莫司乳膏,当他回来接受一个月的随访时,有最小或没有可见的皮肤损伤。纹身墨水已被证明会引起各种皮肤反应,例如感染,肿瘤,和炎症性皮肤病,如湿疹,扁平苔藓,牛皮癣,白癜风,和结节病.继发于纹身墨水的皮肤结节病样反应是罕见的发现;然而,由于系统性结节病在初次出现时和将来都有受累的风险,因此必须认真对待.
    This case represents an impressive finding of a young male who developed cutaneous sarcoid-like reactions that arose secondarily to tattoo ink. Cutaneous manifestations of sarcoidosis can present themselves in various ways, be caused by different inducing factors, and may present themselves not only cutaneously but as one of the many findings of systemic sarcoidosis. A 24-year-old black gentleman presented to the dermatology clinic with a manifestation of papules in his tattoos that covered a majority of his body. The patient tried hypoallergenic tattoo ink to see if this would prevent the formation of these bumps; however, this only further provoked the production of these papules confined to tattooed areas. Skin findings revealed linear raised papules in a continuous fashion in areas where the patient had tattoo ink on his torso, bilateral arms and legs, and face. At presentation, he denied any constitutional, pulmonary, or ophthalmologic symptoms. Pathological findings revealed sarcoidal granulomatous dermatitis showing nodular non-necrotizing granulomatous inflammatory infiltrate involving the superficial and deep dermis. The patient was then evaluated by pulmonology to rule out any systemic findings of sarcoidosis, which showed a negative chest x-ray. The patient was started on oral prednisone and topical pimecrolimus cream, and when he returned for his one-month follow-up, there were minimal to no visible cutaneous lesions. Tattoo ink has been shown to cause a variety of cutaneous reactions such as infections, neoplasms, and inflammatory dermatoses such as eczema, lichen planus, psoriasis, vitiligo, and sarcoidosis. Cutaneous sarcoid-like reactions secondary to tattoo ink are rare findings; however, they must be taken seriously due to the risk of systemic sarcoidosis involvement both at initial presentation and in the future.
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  • 文章类型: Journal Article
    简介支气管超声引导下细针穿刺活检(EBUS-FNAB)是一种微创方法,用于获取气管和支气管附近肿块和淋巴结病变(LAP)的细胞学或组织学标本。肉芽肿,这是一种慢性炎症反应,有多种原因,就像一个\'类似结节病的反应\',因为拉普。在这项研究中,本研究旨在评估诊断为EBUS-FNAB的肉芽肿性淋巴结炎的长期随访结果,并研究肉芽肿性淋巴结炎是否是随访期间发生的恶性肿瘤的前兆.材料与方法回顾性分析123例接受EBUS-FNAB并诊断为肉芽肿性淋巴结炎的患者的病历。年龄,性别,抗酸杆菌(ARB)染色,FNAB检查了结核病培养和结核病聚合酶链反应(PCR)培养结果,记录所有诊断为肉芽肿性淋巴结炎患者的手术指征。无法获取52名患者的长期健康记录。从71名患者收集数据。进步,在至少两年的长期放射学随访中,LAP的消退或稳定状况以及活检后诊断的治疗状况进行了检查。结果123例患者被纳入研究。93例(75.6%)患者进行了快速发作评估(ROSE)。93例患者中有62例(66.6%),涂片结果与基线时的肉芽肿反应一致.手术时,有7例患者(5.6%)存在恶性肿瘤。在两名患者中(1.62%),结核性淋巴结炎是由结核培养阳性诊断的。纳入研究的52例(42.7%)患者未获得长期随访结果。在6名已知恶性肿瘤的LAP患者的长期随访中,其中三个回归,其中一个进步了,其中两个在放化疗后保持稳定。在8例诊断为结节病的患者中开始了甲基强的松龙治疗。虽然五名患者的LAP保持稳定,在3例患者中观察到回归。55例未接受治疗的患者中有24例特发性LAP保持稳定,其中31例自发消退。其中一名患者被诊断为淋巴瘤,另一名患者在长期随访中被诊断为原发性肺癌。结论在怀疑肺结核的病例中,不仅细胞形态学,而且微生物确认也很重要。肉芽肿性淋巴结炎可以在有恶性肿瘤病史的患者的病程中检测到,也可以作为未确诊恶性肿瘤的前兆。因此,肉芽肿性淋巴结炎的诊断是临床病理诊断,对于没有症状或其他发现的患者必须随访。
    Introduction Endobronchial ultrasound-guided fine-needle aspiration biopsy (EBUS-FNAB) is a minimally invasive method used to obtain cytological or histological specimens of masses and lymphadenopathies (LAP) adjacent to the trachea and bronchi. Granulomas, which represent a chronic inflammatory response and occur for a variety of reasons, like a \'sarcoid-like reaction\', cause LAPs. In this study, it was aimed to evaluate the long-term follow-up results of granulomatous lymphadenitis diagnosed with EBUS-FNAB and to investigate whether granulomatous lymphadenopathies were precursors of malignancies that occurred during the follow-up period. Material and methods The medical records of 123 patients who underwent EBUS-FNAB and were diagnosed with granulomatous lymphadenitis were retrospectively reviewed. Age, gender, acid-fast bacilli (ARB) staining, tuberculosis culture and tuberculosis polymerase chain reaction (PCR) culture results were examined by FNAB, and the procedure indications of all patients diagnosed with granulomatous lymphadenitis were recorded. The long-term health records of 52 patients could not be accessed. Data were collected from 71 patients. The progression, regression or stable conditions of LAPs in the long-term radiological follow-up of at least two years and the treatment conditions of diagnosis after biopsy were examined. Results One hundred twenty-three patients were included in the study. Rapid onset evaluation (ROSE) was performed in 93 (75.6%) patients. In 62 (66.6%) of the 93 patients, the smear results were consistent with granulomatous reaction at baseline. Malignancy was present in seven patients (5.6%) at the time of the procedure. In two patients (1.62%), tuberculous lymphadenitis was diagnosed by a positive tuberculosis culture. The long-term follow-up results were not obtained in 52 (42.7%) patients included in the study. At the long-term follow-up of six patients\' LAPs with known malignancies, three of them regressed, one of them progressed, and two of them remained stable after chemoradiotherapy. Methylprednisolone treatment was started in eight patients with the diagnosis of sarcoidosis. While LAP remained stable in five patients, regression was observed in three patients. Idiopathic LAPs remained stable in 24 of 55 patients who received no treatment and regressed spontaneously in 31 of them. One of the patients was diagnosed with lymphoma, and the other patient was diagnosed with primary lung cancer in the long-term follow-up. Conclusion In cases where tuberculosis is suspected, not only cytomorphology but also microbiological confirmation is important. Granulomatous lymphadenitis can be detected both in the disease course of patients with a history of malignancy and as a precursor to undiagnosed malignancy. So the diagnosis of granulomatous lymphadenitis is a clinicopathological diagnosis that must be followed up in patients without symptoms or other findings.
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  • 文章类型: Journal Article
    未经证实:结节病与自身免疫之间的关联已有多年的报道。然而,自身抗体在结节病病理生理学和临床治疗中的意义尚不清楚.没有可用作血清学生物标志物来诊断疾病的自身抗体,监测疾病的状态,并预测患者的预后。
    UNASSIGNED:我们对血清自身抗体进行了综合分析,并分析了它们与结节病临床特征的关联。
    UNASSIGNED:与系统性自身免疫性风湿性疾病相关的自身抗体的患者比没有自身抗体的患者在高分辨率计算机断层扫描中具有更高的晚期影像学分期和合并的患病率(p<.05)。年龄,性别,临床病史,肺功能检查,血清血管紧张素转换酶水平,类风湿因子,受累器官的数量两组间无显著差异。
    UNASSIGNED:结节病患者自身抗体与更晚期的肺部病变之间可能存在关联。需要进一步的研究来确定自身抗体的重要性。
    UNASSIGNED: The association between sarcoidosis and autoimmunity has been reported for years. However, the significance of autoantibodies in the pathophysiology and clinical management of sarcoidosis is not well understood. No autoantibodies that can be used as serologic biomarkers to diagnose the disease, monitor the state of the disease, and predict the prognosis of patients are established.
    UNASSIGNED: We performed a comprehensive analysis of serum autoantibodies and analyzed their associations with clinical features of sarcoidosis.
    UNASSIGNED: Patients with systemic autoimmune rheumatic diseases-associated autoantibodies had a higher prevalence of advanced radiographic stage and consolidations in high-resolution computed tomography than patients without autoantibodies (p < .05). Age, sex, clinical history, pulmonary function tests, serum angiotensin-converting enzyme levels, rheumatoid factor, and the number of involved organs were not significantly different between the two groups.
    UNASSIGNED: There may be an association between autoantibodies and more advanced pulmonary lesions in patients with sarcoidosis. Further investigations are needed to establish the significance of autoantibodies.
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  • 文章类型: Case Reports
    背景:结节病是一种全身性炎性疾病,其组织学特征为非干酪性上皮样细胞肉芽肿。然而,某些感染也可能出现类似的组织学发现。因此,区别感染是确保适当治疗的关键。这里,我们介绍了一例因白细胞介素12受体亚单位β1(IL-12Rβ1)相关免疫缺陷导致的遗传分枝杆菌播散性感染的病例,该病例最初被误诊为结节病.GenavenseM.是一种非结核分枝杆菌,可引起淋巴结病,免疫功能低下患者的胃肠道和骨髓浸润。在此病例报告中,我们旨在强调以分枝杆菌免疫控制的遗传缺陷为由的M.genavense感染可能代表结节病的罕见鉴别诊断。
    方法:一名31岁女性因进展性淋巴结肿大被转诊到我院,肝脾肿大,全血细胞减少和全身炎症。她以前曾在另一家医院接受过全身淋巴结病的评估。当时,淋巴结活检发现了结节病样病变,并根据假定的结节病诊断开始了全身性皮质类固醇治疗。当她的病情恶化时,她被转到我们的大学诊所,诊断为由于先天性干扰素病引起的播散性M.genavense感染。她的家族史显示,她的兄弟也患有IL-12Rβ1缺乏症,并在21岁时死于系统性感染。患者接受抗分枝杆菌联合皮下I型干扰素治疗,最终导致在接下来的几个月中逐步改善。
    结论:区分结节病和继发于感染的结节病样病变可能具有挑战性,特别是当病原体难以检测或预期在一个明显的免疫能力的患者。IL-12Rβ1相关免疫缺陷的患者可能在成年前无症状,和以IL-12Rβ1相关免疫缺陷为由的传播性M.genavense感染可能代表结节病的罕见鉴别诊断。
    BACKGROUND: Sarcoidosis is a systemic inflammatory disease that is characterized by non-caseating epithelioid-cell granulomas upon histology. However, similar histological findings may also be seen with certain infections. Thus, differentiation from infection is pivotal to ensure appropriate treatment. Here, we present a case of a disseminated infection with Mycobacterium genavense owing to an interleukin 12 receptor subunit beta 1 (IL-12Rβ1) associated immunodeficiency in a previously healthy female who was initially misdiagnosed with sarcoidosis. M. genavense is a nontuberculous mycobacterium which can cause lymphadenopathy, gastrointestinal and bone marrow infiltration in immunocompromised patients. With this case report we aim to highlight that an infection with M. genavense on the ground of a genetic defect of mycobacterial immune control may represent a rare differential diagnosis of sarcoidosis.
    METHODS: A 31-year-old female was referred to our hospital with progressive lymphadenopathy, hepatosplenomegaly, pancytopenia and systemic inflammation. She had previously been evaluated for generalized lymphadenopathy in another hospital. At that time, lymph node biopsies had revealed sarcoid-like lesions and a systemic corticosteroid treatment was initiated based on a putative diagnosis of sarcoidosis. When her condition worsened, she was transferred to our university clinic, where the diagnosis of disseminated M. genavense infection owing to an inborn interferonopathy was made. Her family history revealed that her brother had also suffered from IL-12Rβ1 deficiency and had died from a systemic infection with M. genavense at the age of 21. The patient received antimycobacterial treatment combined with subcutaneous type I interferon, which eventually led to a gradual improvement over the next months.
    CONCLUSIONS: Differentiating between sarcoidosis and sarcoid-like lesions secondary to infections may be challenging, especially when pathogens are difficult to detect or not expected in an apparently immunocompetent patient. Patients with IL-12Rβ1-associated immunodeficiency may be asymptomatic until adulthood, and disseminated M. genavense infection on the grounds of an IL-12Rβ1-associated immunodeficiency may represent a rare differential diagnosis of sarcoidosis.
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