Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort.
Patients with autoimmune lymphoproliferative syndrome (ALPS), a disorder of impaired lymphocyte apoptosis, often undergo radiographic chest imaging to evaluate the presence and progression of lymphadenopathy. These images often lead to parenchymal and interstitial lung findings of unclear clinical significance.



To characterize the pulmonary findings associated with ALPS and to determine if lung abnormalities present on computed tomographic (CT) imaging of the chest correlate with infection or functional status.



Patients with lung abnormalities observed on chest CT scans were retrospectively identified from the largest known ALPS cohort. Lung computed tomography findings were characterized and correlated with medical records, bronchoalveolar lavage, biopsy, and lung function.



CT images of the chest were available for 234 (92%) of 255 of the patients with ALPS. Among patients with a chest CT scan, 18 (8%) had lung abnormalities on at least one CT scan. Fourteen (78%) of those 18 were classified as having ALPS with undetermined genetic defect. Most patients (n = 16 [89%]) with lung lesions were asymptomatic. However, two (11%) of them had associated dyspnea and/or desaturation on room air. Immunosuppressive treatment was administered for lung disease in nine (50%) cases, and all were followed for clinical outcomes.



Patients with ALPS can develop chest radiographic findings with protean manifestations that may mimic pulmonary infection. Management of patients with ALPS with incidental lung lesions identified by CT imaging should be guided by clinical correlation. Symptomatic patients may benefit from chest CT imaging and lesion biopsy to exclude infection and guide administration of immunosuppressive therapy.
1 Collaborative Clinical Research Branch, Division of Clinical Research.
Chuen-Yen
CY
Lau
3 Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.|2 Division of Pulmonary and Critical Care Medicine, University of Virginia, Charlottesville, Virginia; and.|4 Lovelace Respiratory Research Institute, Albuquerque, New Mexico.
Andrew D
AD
Mihalek
5 Clinical Monitoring Research Program, Leidos Biomedical Research, Inc., and.
Jing
J
Wang
6 Biostatistics Research Branch, Division of Clinical Research, and.
Lori E
LE
Dodd
7 Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.|8 Leidos Biomedical Research, Inc., Frederick National Laboratory, National Cancer Institute, National Institutes of Health, Frederick, Maryland.
Katie
K
Perkins
7 Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Susan
S
Price
7 Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
Sharon
S
Webster
9 Laboratory of Pathology, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.
Stefania
S
Pittaluga
10 Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland.
Les R
LR
Folio
7 Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland.
V Koneti
VK
Rao
3 Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland.
Kenneth N
0000-0001-8200-255X
KN
Olivier
D000293:Adolescent; D000328:Adult; D058070:Asymptomatic Diseases; D056735:Autoimmune Lymphoproliferative Syndrome / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D016208:Databases, Factual; D005260:Female; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007223:Infant; D008168:Lung / Q000473:pathology*; D008171:Lung Diseases / Q000000981:diagnostic imaging* / Q000188:drug therapy / Q000453:epidemiology*; D008297:Male; D008875:Middle Aged; D012129:Respiratory Function Tests; D012189:Retrospective Studies; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed; D014481:United States; D055815:Young Adult
D007166:Immunosuppressive Agents
imaging; natural history; pulmonary function