Imaging Features of Primary Immunodeficiency Disorders

Abstract

Primary immunodeficiency disorders (PIDs), which are humoral, combined, and innate defects of the immune system, are relatively uncommon and may go undiagnosed in patients experiencing recurrent infections, resulting in increased morbidity and mortality. PIDs are clinically characterized by a broad spectrum of disorders, including repeated infections, autoimmune disorders, lymphoproliferative diseases, congenital anomalies, and increased risk of malignancy. Cardiothoracic imaging plays a crucial role in the diagnosis of PIDs owing to the high rates of repeated respiratory infections leading to bronchiectasis and other forms of chronic lung disease. Although PIDs as a group may seem similar in terms of radiologic features and clinical manifestations, there are specific entities that are pertinent to each PID on an individual level. For example, patients with common variable immunodeficiency may develop a unique granulomatous lymphocytic interstitial lung disease, and Good syndrome is associated with thymoma. Familiarity with the imaging characteristics of these disorders may expedite diagnosis and prognostication, and better direct therapy. Reviewing the thoracic manifestations of all PIDs is beyond the scope of this article; thus, the focus herein is on discussing the thoracic manifestations of the most common PIDs and their imaging features. © RSNA, 2021An earlier incorrect version appeared online. This article was corrected on March 25, 2021.

Figure 1:

Selective immunoglobulin A deficiency in a young patient. A, B, Transaxial CT images show basilar predominant bronchiectasis (white arrows), tree-in-bud nodularity (black arrow), and right middle lobe peribronchial consolidation (arrowhead).

Figure 2:

A–F, X-linked agammaglobulinemia (XLA) in multiple patients with acute and chronic lung findings. A–C, Acute pneumonia in three patients with XLA. A, Transaxial CT image in a young patient with XLA shows multifocal ground-glass opacities (arrows) in the right lung. B, Transaxial CT image in a young patient with XLA shows extensive centrilobular ground-glass nodularity (arrows) in the left lower lobe. C, Transaxial CT image in a 59-year-old man with history of XLA shows multiple foci consolidation and ground-glass opacity in the right upper lobe (arrows). D, E, XLA in a 17-year-old male patient. D, Axial CT image through the right lower lobe shows varicoid bronchiectasis in the right lower lobe with associated bronchial wall thickening (arrow). There is mucoid impaction in the form of tree-in-bud nodules (arrowhead). E, Coronal CT image of the lungs shows right lower lobe bronchiectasis, mosaic attenuation, and chronic left lower lobe atelectasis with bronchiectatic change (arrow). F, Mucoid impaction in XLA. Transaxial CT image through the lungs in a 34-year-old man with history of XLA shows left lower lobe bronchiectasis with extensive mucoid impaction (arrow) and resultant air trapping throughout the left lower lobe.

Figure 3:

A–D, Common variable immunodeficiency (CVID) in three patients with acute lung infections. A, B, Respiratory syncytial virus pneumonia in a patient with CVID. CT images demonstrate multifocal ground-glass opacities bilaterally (arrows). C, Transaxial CT image through the lower lungs shows bilateral multifocal areas of consolidation (arrows) in the setting of multifocal pneumonia. D, CT image of the right lung demonstrates cluster of tree-in-bud nodularity (arrow) in the superior segment of the right lower lobe compatible with an acute infectious process.

Figure 4:

A, Common variable immunodeficiency (CVID) in a 20-year-old man with bronchiectasis. CT image through the left lower lobes shows lower lung bronchiectasis (white arrow), mucus plugs, bronchial wall thickening, and chronic atelectasis of the left lower lobe (black arrow). A background of diffuse mosaicism is present. B, Unclassified interstitial lung disease (ILD) in a patient with CVID. CT image through the lower lobes shows basilar predominant reticular abnormality, ground-glass opacity, traction bronchiectasis, and interlobular septal thickening. C, Lymphocytic interstitial pneumonia in CVID. CT image through the lower lobes shows ill-defined centrilobular ground-glass nodules and interlobular septal thickening at the lung bases (arrows). D–F, A 45-year-old man with CVID and biopsy-proven granulomatous lymphocytic ILD. CT images in lung window through the upper and lower lobes, D, E, demonstrate foci of consolidation and ill-defined nodules (arrowheads), interlobular septal thickening (white arrows), and ground-glass opacities (black arrows). CT image in soft-tissue window through the lung bases, F, shows bilateral consolidated foci (arrows).

Figure 5:

Hyperimmunoglobulin M syndrome in a young patient with atypical pneumonia. Chest CT image shows multifocal ground-glass opacities bilaterally (arrows).

Figure 6:

Severe combined immunodeficiency (SCID) in multiple patients. A, B, A 20-year-old woman with SCID and pneumonia. Chest CT image shows a right upper lobe consolidation (black arrow) and significant mediastinal lymphadenopathy (white arrows). C, Young woman with SCID. Chest CT image through the lung bases shows bilateral lower lobe bronchiectasis and mucus plugging (arrows). D, Noncontrast chest CT image in a 21-year-old woman shows absence of thymic tissue (*).

Figure 7:

A–C, The 22q11.2 deletion syndrome in two patients with congenital heart disease. A, Volume-rendered CT image of the heart shows changes of repaired interruption of the aortic arch (arrow). B, C, Contrast-enhanced cardiac CT images show repaired tetralogy of Fallot with pulmonary artery stents, ventricular septal defect patch (black arrow), and transannular patch repair (white arrow).

Figure 8:

A–D, Hyperimmunoglobulin (hyper-IgE) syndrome (Job syndrome) in four patients. A, A 19-year-old woman with Job syndrome and right upper lobe pneumonia. Chest CT image shows a right upper lobe consolidation (arrow). B, Staphylococcal empyema in a 45-year-old woman with Job syndrome. Contrast-enhanced chest CT image shows a mildly loculated right pleural effusion with associated compressive atelectasis. C, Chest CT image shows a large, thick-walled abscess in the right upper lobe (black arrow) and a pneumatocele in the left upper lobe (white arrow). D, Chest CT image in a young patient with hyper-IgE syndrome and multiple cavitary and cystic lesions in the right lung (white arrow). One of these ruptured into the anterior mediastinum (black arrow).

Figure 9:

A–C, Hyperimmunoglobulin E syndrome in a 19-year-old woman with cavitary change. Initial, A, axial and, B, coronal chest CT images show a consolidation in the right lower lobe with cavitary changes (arrows). C, Axial chest CT image at 2-year follow-up shows a large pneumatocele in the region of the prior consolidation.

Figure 10:

A–B, Ataxia telangiectasia in a 7-month-old infant with neuroblastoma. A, Contrast-enhanced chest CT image demonstrates widespread heterogeneously enhancing paraspinal masses displacing mediastinal structures anteriorly and encasing the descending thoracic aorta. B, Iodine 123 metaiodobenzylguanidine (MIBG) SPECT demonstrates diffuse MIBG uptake throughout these paraspinal masses, which is consistent with neuroblastoma.

Figure 11:

Wiskott-Aldrich syndrome in a 6-month-old infant with multifocal pneumonia. Coronal reformatted chest CT image shows multifocal ground-glass opacities bilaterally, a finding compatible with infection.

Figure 12:

A–D, Chronic granulomatous disease (CGD) in three patients. A, Chest CT image in a young patient with CGD shows a cavitary pneumonia (arrow) in the right upper lobe. B, Chest CT image in a young patient with CGD shows a focus of consolidation (arrow) in the left lower lobe. C, Chest CT image in a child with CGD demonstrates extensive consolidative and cavitary changes throughout the lower lobes (arrows). D, Autopsy specimen of the same patient shows the extensive cavitary/necrotizing foci in the lungs.

Figure 13:

Comparative Venn diagram depicts imaging features of the broad groups of primary immunodeficiency disorders. Not every disease presents with these findings. ILD = interstitial lung disease, * = recurrent respiratory tract infections (RTIs) lead to bronchiectasis.