Abstract
Granulomatous inflammation of the lung can be a manifestation of different conditions and can be caused by endogenous inflammation or external triggers. A multitude of different genetic mutations can either predispose patients to infections with granuloma-forming pathogens or cause autoinflammatory disorders, both leading to the phenotype of pulmonary granulomatosis. Based on a detailed patient history, physical examination and a diagnostic approach including laboratory workup, pulmonary function tests (PFTs), computed tomography (CT) scans, bronchoscopy with bronchoalveolar lavage (BAL), lung biopsies and specialised microbiological and immunological diagnostics, a correct diagnosis of an underlying cause of pulmonary granulomatosis of genetic origin can be made and appropriate therapy can be initiated. Depending on the underlying disorder, treatment approaches can include antimicrobial therapy, immunosuppression and even haematopoietic stem cell transplantation (HSCT). Patients with immunodeficiencies and autoinflammatory conditions are at the highest risk of developing pulmonary granulomatosis of genetic origin. Here we provide a review on these disorders and discuss pathogenesis, clinical presentation, diagnostic approach and treatment.
Abstract
Pulmonary granulomatosis of genetic origin mostly occurs in immunodeficiency disorders and autoinflammatory conditions. In addition to specific approaches in this regard, the diagnostic workup needs to cover environmental and occupational aspects. https://bit.ly/31SqdHW
Footnotes
Previous articles in the Series: No. 1: Daccord C, Good J-M, Morren M-A, et al. Brit–Hogg–Dubé syndrome. Eur Respir Rev 2020; 29: 200042. No. 2: Hadchouel A, Drummond D, Abou Taam R, et al. Alveolar proteinosis of genetic origins. Eur Respir Rev 2020; 29: 200187. No. 3: Cazzato S, Omenetti A, Ravaglia C, et al. Lung involvement in monogenetic interferonopathies. Eur Respir Rev 2021; 30: 200001. No. 4: Yokoyama T, Gochuico BR. Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease. Eur Respir Rev 2021; 30: 200193. No. 5: van Moorsel CHM, Van der Vis JJ, Grutters JC. Genetic disorders of the surfactant system: focus on adult disease. Eur Respir Rev 2021; 30: 200085.
Provenance: Commissioned article, peer reviewed.
Author contributions: S.F.N. Bode conceptualised the review and prepared the first draft of the manuscript. M. Seidl provided the histological figures and descriptions. All authors critically revised and edited the manuscript and agreed to the submitted version.
Number 6 in the Series “Rare genetic interstitial lung diseases” Edited by Bruno Crestani and Raphaël Borie
Conflict of interest: S.F.N. Bode has nothing to disclose.
Conflict of interest: J. Rohr has nothing to disclose.
Conflict of interest: J.M. Müller-Quernheim reports grants and non-financial support from Bristol Myers Squibb; personal fees from Roche and Novartis; personal fees and non-financial support from Boehringer Ingelheim; and non-financial support from CLS Behring, outside the submitted work. In addition, J.M. Müller-Quernheim has a patent “Use of inhaled VIP for treatment of immune checkpoint inhibitor-induced pneumonitis” pending and is co-founder of AdVita Lifescience GmbH, a spin-off of the University of Freiburg. Advita reports a pending intellectual property concerning the use of Aviptadil for the treatment of immune checkpoint inhibitor (ICI) pneumonitis.
Conflict of interest: M. Seidl has nothing to disclose.
Conflict of interest: C. Speckmann has nothing to disclose.
Conflict of interest: A. Heinzmann has nothing to disclose.
- Received May 19, 2020.
- Accepted August 27, 2020.
- Copyright ©ERS 2021.
This article is open access and distributed under the terms of the Creative Commons Attribution Non-Commercial Licence 4.0.
