Buso Helena, Discardi Claudia, Bez Patrick, Muscianisi Francesco, Ceccato Jessica, Milito Cinzia, Firinu Davide, Landini Nicholas, Jones Mark G, Felice Carla, Rattazzi Marcello, Scarpa Riccardo, Cinetto Francesco
Rare Diseases Referral Center, Internal Medicine 1, Department of Medicine (DIMED), AULSS2 Marca Trevigiana, Ca' Foncello Hospital, University of Padova, 35124 Padova, Italy.
Haematology and Clinical Immunology Unit, Department of Medicine (DIMED), University of Padova, 35124 Padova, Italy.
Biomedicines. 2024 Jul 6;12(7):1503. doi: 10.3390/biomedicines12071503.
Sarcoidosis and Granulomatous and Lymphocytic Interstitial Lung Diseases (GLILD) are two rare entities primarily characterised by the development of Interstitial Lung Disease (ILD) in the context of systemic immune dysregulation. These two conditions partially share the immunological background and pathologic findings, with granuloma as the main common feature. In this narrative review, we performed a careful comparison between sarcoidosis and GLILD, with an overview of their main similarities and differences, starting from a clinical perspective and ending with a deeper look at the immunopathogenesis and possible target therapies. Sarcoidosis occurs in immunocompetent individuals, whereas GLILD occurs in patients affected by common variable immunodeficiency (CVID). Moreover, peculiar extrapulmonary manifestations and radiological and histological features may help distinguish the two diseases. Despite that, common pathogenetic pathways have been suggested and both these disorders can cause progressive impairment of lung function and variable systemic granulomatous and non-granulomatous complications, leading to significant morbidity, reduced quality of life, and survival. Due to the rarity of these conditions and the extreme clinical variability, there are still many open questions concerning their pathogenesis, natural history, and optimal management. However, if studied in parallel, these two entities might benefit from each other, leading to a better understanding of their pathogenesis and to more tailored treatment approaches.
结节病和肉芽肿性淋巴细胞间质性肺病（GLILD）是两种罕见疾病，主要特征是在全身免疫失调的情况下发生间质性肺病（ILD）。这两种疾病部分共享免疫背景和病理表现，以肉芽肿为主要共同特征。在这篇叙述性综述中，我们对结节病和GLILD进行了仔细比较，概述了它们的主要异同，从临床角度出发，最后深入探讨免疫发病机制和可能的靶向治疗。结节病发生在免疫功能正常的个体中，而GLILD发生在患有常见可变免疫缺陷（CVID）的患者中。此外，特殊的肺外表现以及影像学和组织学特征可能有助于区分这两种疾病。尽管如此，已经提出了共同的发病机制途径，并且这两种疾病都可导致肺功能进行性损害以及各种全身性肉芽肿性和非肉芽肿性并发症，从而导致显著的发病率、生活质量下降和生存问题。由于这些疾病的罕见性以及极端的临床变异性，关于它们的发病机制、自然史和最佳管理仍有许多未解决的问题。然而，如果并行研究，这两种疾病可能会相互受益，从而更好地理解它们的发病机制并采用更具针对性的治疗方法。
