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1.
N Engl J Med ; 390(24): 2309-2319, 2024 Jun 27.
Article in English | MEDLINE | ID: mdl-38924735
2.
Curr Opin Pulm Med ; 27(4): 255-261, 2021 07 01.
Article in English | MEDLINE | ID: mdl-33927131

ABSTRACT

PURPOSE OF REVIEW: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare premalignant condition. Over the past decade, there has been increased recognition and reporting of DIPNECH in the literature. Currently, our understanding is that DIPNECH has a predilection to nonsmoking females around their sixth decade of life. The patients usually present with chronic cough, dyspnea, and computed tomography (CT) showing multifocal pulmonary nodules with associated mosaic attenuation. The clinic history is largely driven by constrictive obliterative bronchiolitis, which typically has an indolent course with progressive respiratory decline and difficult to treat symptoms. RECENT FINDINGS: DIPNECH has been found to be associated with carcinoid tumors. Recent data has found that symptomatic DIPNECH patients respond to somatostatin analog (SSA). SSAs provide improvement in symptoms and pulmonary function tests. According to small studies and case series SSAs can be used in conjunction with steroids and bronchodilators for the treatment of respiratory symptoms. SUMMARY: DINPNECH is a premalignant condition that can transform into carcinoid tumors. Although the recent data suggest the potential efficacy of SSA, further studies are needed to validate such results in prospective fashion in addition to investigating other therapeutic agents.


Subject(s)
Carcinoid Tumor , Lung Neoplasms , Multiple Pulmonary Nodules , Neuroendocrine Cells , Precancerous Conditions , Carcinoid Tumor/pathology , Female , Humans , Hyperplasia/pathology , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/drug therapy , Lung Neoplasms/pathology , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/drug therapy , Neuroendocrine Cells/pathology , Precancerous Conditions/pathology
3.
J Surg Oncol ; 122(3): 450-456, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32378193

ABSTRACT

OBJECTIVE: To evaluate the incidence of pulmonary metastases on chest computed tomography (CT) in patients with locally advanced pancreatic cancer (LAPC). METHODS: All patients diagnosed with LAPC in a single tertiary center (Erasmus MC) between October 2011 and December 2017 were reviewed. The staging chest CT scan and follow-up chest CT scans were evaluated. Pulmonary nodules were divided into three categories: apparent benign, too small to characterize, and apparent malignant. RESULTS: In 124 consecutive patients diagnosed with LAPC, 119 (96%) patients underwent a staging chest CT scan at the initial presentation. In 88 (74%) patients no pulmonary nodules were found; in 16 (13%) patients an apparent benign pulmonary nodule was found, and in 15 (13%) patients a pulmonary nodule too small to characterize was found. Follow-up chest CT scan(s) were performed in 111 (93%) patients. In one patient with either no pulmonary nodule or an apparent benign pulmonary nodule at initial staging, an apparent malignant pulmonary nodule was found on a follow-up chest CT scan. However, a biopsy of the nodule was inconclusive. Of 15 patients in whom a pulmonary nodule too small to characterize was found at staging, 12 (80%) patients underwent a follow-up CT scan; in 4 (33%) of these patients, an apparent malignant pulmonary nodule was found. CONCLUSION: In patients with LAPC in whom at diagnosis a chest CT scan revealed either no pulmonary nodules or apparent benign pulmonary nodules, routine follow-up chest CT scans is not recommended. Patients with pulmonary nodules too small to characterize are at risk to develop apparent malignant pulmonary nodules during follow-up.


Subject(s)
Lung Neoplasms/diagnostic imaging , Lung Neoplasms/secondary , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/secondary , Pancreatic Neoplasms/diagnostic imaging , Pancreatic Neoplasms/pathology , Aged , Albumins/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Deoxycytidine/administration & dosage , Deoxycytidine/analogs & derivatives , Female , Fluorouracil/administration & dosage , Humans , Irinotecan/administration & dosage , Leucovorin/administration & dosage , Lung Neoplasms/drug therapy , Lung Neoplasms/radiotherapy , Male , Middle Aged , Multiple Pulmonary Nodules/drug therapy , Multiple Pulmonary Nodules/radiotherapy , Neoplasm Staging , Oxaliplatin/administration & dosage , Paclitaxel/administration & dosage , Pancreatic Neoplasms/drug therapy , Pancreatic Neoplasms/radiotherapy , Radiosurgery , Retrospective Studies , Tomography, X-Ray Computed , Gemcitabine
4.
Lung ; 196(5): 577-581, 2018 10.
Article in English | MEDLINE | ID: mdl-30167840

ABSTRACT

BACKGROUND: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare pulmonary condition, characterized by diffuse proliferation of neuroendocrine cells in the respiratory epithelium. DIPNECH lesions are less than 5 mm in size and are limited to the basement membrane with no invasion. There is limited information regarding epidemiology, natural history of disease progression, or the management of this rare entity. We present the experience of a center with extensive expertise in neuroendocrine disease. METHODS: A cohort of patients (N = 13) with DIPNECH treated and followed at our institution was identified. We describe the our approach to their care, our disease management and also provide a review of DIPNECH pathophysiology. RESULTS: Our patient cohort consisted of twelve females and one male with a mean age of 63 years at the time of diagnosis. Dyspnea on exertion and dry cough were the most common presenting symptoms. Two patients were under surveillance without treatment; three patients were treated with a short-acting somatostatin analog; three patients were treated with azithromycin alone; four were treated with a combination of long-acting monthly somatostatin analogs and azithromycin; one patient received a combination of long-acting somatostatin analog and everolimus. Five patients had concomitant bronchial carcinoids. CONCLUSIONS: DIPNECH is a rare pathology that can profoundly affect a patient's quality of life. Paroxysmal coughing episodes can be difficult to treat. Our limited single center experience shows encouraging response to use of somatostatin analogs, azithromycin, and everolimus in the management of debilitating DIPNECH associated symptoms.


Subject(s)
Lung Diseases/drug therapy , Neuroendocrine Cells/pathology , Respiratory Mucosa/pathology , Aged , Anti-Bacterial Agents/therapeutic use , Antineoplastic Agents, Hormonal/therapeutic use , Azithromycin/therapeutic use , Bronchial Neoplasms/complications , Carcinoid Tumor/complications , Cough/etiology , Dyspnea/etiology , Everolimus/therapeutic use , Female , Humans , Hyperplasia/complications , Hyperplasia/drug therapy , Hyperplasia/physiopathology , Immunosuppressive Agents/therapeutic use , Lung Diseases/complications , Lung Diseases/physiopathology , Male , Middle Aged , Multiple Pulmonary Nodules/complications , Multiple Pulmonary Nodules/drug therapy , Multiple Pulmonary Nodules/physiopathology , Octreotide/therapeutic use , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Fibrosis/complications , Quality of Life
5.
Pneumonol Alergol Pol ; 84(3): 174-7, 2016.
Article in English | MEDLINE | ID: mdl-27238180

ABSTRACT

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare disease that is classically described as presenting with cough, dyspnea, and wheezing in non-smoker middle aged females. Pulmonary function tests commonly demonstrate an obstructive pattern and CT of chest usually reveals diffuse air trapping with mosaic pattern. We present a case of patient with DIPNECH manifesting with restrictive pattern and as usual interstitial pneumonia on imaging.


Subject(s)
Idiopathic Pulmonary Fibrosis/diagnosis , Lung Diseases/diagnosis , Lung Diseases/pathology , Lung/pathology , Neuroendocrine Cells/pathology , Aged , Biopsy , Coronary Artery Disease/complications , Cough/etiology , Dyspnea/etiology , Female , Humans , Hyperplasia/diagnosis , Hyperplasia/diagnostic imaging , Hyperplasia/drug therapy , Idiopathic Pulmonary Fibrosis/diagnostic imaging , Idiopathic Pulmonary Fibrosis/drug therapy , Idiopathic Pulmonary Fibrosis/pathology , Lung/diagnostic imaging , Lung Diseases/diagnostic imaging , Lung Diseases/drug therapy , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/drug therapy , Multiple Pulmonary Nodules/pathology , Respiratory Function Tests , Tomography, X-Ray Computed
6.
Ann Oncol ; 26(5): 1025-1030, 2015 May.
Article in English | MEDLINE | ID: mdl-25672894

ABSTRACT

BACKGROUND: A previously carried out randomized phase IIb, placebo-controlled trial of 1 year of inhaled budesonide, which was nested in a lung cancer screening study, showed that non-solid and partially solid lung nodules detected by low-dose computed tomography (LDCT), and not immediately suspicious for lung cancer, tended to regress. Because some of these nodules may be slow-growing adenocarcinoma precursors, we evaluated long-term outcomes (after stopping the 1-year intervention) by annual LDCT. PATIENTS AND METHODS: We analyzed the evolution of target and non-target trial nodules detected by LDCT in the budesonide and placebo arms up to 5 years after randomization. The numbers and characteristics of lung cancers diagnosed during follow-up were also analyzed. RESULTS: The mean maximum diameter of non-solid nodules reduced significantly (from 5.03 mm at baseline to 2.61 mm after 5 years) in the budesonide arm; there was no significant size change in the placebo arm. The mean diameter of partially solid lesions also decreased significantly, but only by 0.69 mm. The size of solid nodules did not change. Neither the number of new lesions nor the number of lung cancers differed in the two arms. CONCLUSIONS: Inhaled budesonide given for 1 year significantly decreased the size of non-solid nodules detected by screening LDCT after 5 years. This is of potential importance since some of these nodules may progress slowly to adenocarcinoma. However, further studies are required to assess clinical implications. CLINICAL TRIAL NUMBER: NCT01540552.


Subject(s)
Adenocarcinoma/prevention & control , Antineoplastic Agents/administration & dosage , Budesonide/administration & dosage , Lung Neoplasms/prevention & control , Multiple Pulmonary Nodules/drug therapy , Precancerous Conditions/drug therapy , Solitary Pulmonary Nodule/drug therapy , Adenocarcinoma/diagnostic imaging , Adenocarcinoma of Lung , Administration, Inhalation , Antineoplastic Agents/adverse effects , Budesonide/adverse effects , Clinical Trials, Phase II as Topic , Early Detection of Cancer/methods , Humans , Lung Neoplasms/diagnostic imaging , Multidetector Computed Tomography , Multiple Pulmonary Nodules/diagnostic imaging , Precancerous Conditions/diagnostic imaging , Predictive Value of Tests , Randomized Controlled Trials as Topic , Retrospective Studies , Risk Factors , Solitary Pulmonary Nodule/diagnostic imaging , Time Factors , Treatment Outcome
7.
Rheumatology (Oxford) ; 59(4): 905-907, 2020 04 01.
Article in English | MEDLINE | ID: mdl-31598716
8.
Lung ; 193(1): 151-3, 2015 Feb.
Article in English | MEDLINE | ID: mdl-25318866

ABSTRACT

We report the case of a 45-year-old man who initially presented with chondrosarcoma of the left femur that was treated surgically. Follow-up chest computed tomography (CT) performed 3 years later showed multiple small nodules with a tree-in-bud branching pattern and larger elongated opacities with beaded contours. These findings raised the suspicion of intravascular tumor embolism. Pulmonary CT angiography demonstrated intravascular thrombosis and dilated and beaded peripheral pulmonary arteries. The tumoral origin of the thrombus was confirmed by lung biopsy.


Subject(s)
Chondrosarcoma/secondary , Femoral Neoplasms/pathology , Lung Neoplasms/secondary , Multiple Pulmonary Nodules/secondary , Neoplastic Cells, Circulating/pathology , Pulmonary Artery/pathology , Biopsy , Chondrosarcoma/diagnostic imaging , Chondrosarcoma/drug therapy , Chondrosarcoma/surgery , Femoral Neoplasms/surgery , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/drug therapy , Male , Middle Aged , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/drug therapy , Pulmonary Artery/diagnostic imaging , Tomography, X-Ray Computed
10.
Int J Rheum Dis ; 27(1): e15013, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38140794

ABSTRACT

Pulmonary rheumatoid nodules are rare extra-articular manifestations of rheumatoid arthritis (RA). They are usually asymptomatic but may form cavities and cause clinical symptoms. These nodules are difficult to differentiate clinically and radiologically from tuberculosis, fungal infection, or lung malignancies. Histopathological studies help in the differential diagnosis of pulmonary nodules in patients with RA; however, an effective treatment for rheumatoid lung nodules has not yet been established. This study reports a case of active RA with interstitial lung disease and a large inflammatory lung nodule that was improved with tofacitinib treatment.


Subject(s)
Arthritis, Rheumatoid , Lung Diseases, Interstitial , Multiple Pulmonary Nodules , Piperidines , Pyrimidines , Rheumatoid Nodule , Humans , Arthritis, Rheumatoid/diagnosis , Arthritis, Rheumatoid/drug therapy , Arthritis, Rheumatoid/complications , Rheumatoid Nodule/chemically induced , Rheumatoid Nodule/diagnosis , Rheumatoid Nodule/drug therapy , Lung/diagnostic imaging , Lung/pathology , Lung Diseases, Interstitial/diagnostic imaging , Lung Diseases, Interstitial/drug therapy , Multiple Pulmonary Nodules/chemically induced , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/drug therapy
14.
Lung ; 189(5): 433-5, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21809057

ABSTRACT

Inflammatory myofibroblastic tumor (IMT) is a rare tumorous lesion that presents as a solitary nodule. Complete surgical resection is the standard treatment. However, due to its rarity, the optimal therapeutic strategy for multiple IMTs has not been defined. A 32-year-old man was referred to our hospital for evaluation of multiple pulmonary nodules. On computed tomography (CT) scan of the chest, there were a 3.0 × 1.7 cm mass with heterogeneous enhancement in the left upper lobe and multiple small nodules bilaterally. We performed wedge resection of the mass, and histopathology revealed IMT. He was treated with oral corticosteroids. The clinical and radiologic responses were so excellent that a CT scan showed complete resolution 1 month after the initiation of corticosteroid therapy. These observations suggest that corticosteroids may be the way to treat bilateral multiple IMT of the lung.


Subject(s)
Antineoplastic Agents/therapeutic use , Granuloma, Plasma Cell/drug therapy , Lung Neoplasms/drug therapy , Multiple Pulmonary Nodules/drug therapy , Neoplasms, Muscle Tissue/drug therapy , Prednisone/therapeutic use , Adult , Combined Modality Therapy , Granuloma, Plasma Cell/diagnostic imaging , Granuloma, Plasma Cell/pathology , Granuloma, Plasma Cell/surgery , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/pathology , Lung Neoplasms/surgery , Male , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/pathology , Multiple Pulmonary Nodules/surgery , Neoplasms, Muscle Tissue/diagnostic imaging , Neoplasms, Muscle Tissue/pathology , Neoplasms, Muscle Tissue/surgery , Tomography, X-Ray Computed , Treatment Outcome
15.
J Immunother Cancer ; 9(4)2021 04.
Article in English | MEDLINE | ID: mdl-33820821

ABSTRACT

Multiple primary lung cancer (MPLC) remains a tough challenge to diagnose and treat. Although neoadjuvant immunotherapy has shown promising results in early stage non-small cell lung cancer, whether such modality can benefit all primary lesions remains unclear. Herein, we performed integrated multiomics analysis in one patient with early stage MPLC with remarkable tumor shrinkage in a solid nodule and no response in two subsolid nodules after treatment with three cycles of neoadjuvant pembrolizumab. Genomic heterogeneity was observed among responding nodules with high levels of infiltrating CD8+ and CD68+ immune cells. Substantially downregulated human leukocyte antigen (HLA)-related genes and impaired T lymphocyte function were observed in non-responding nodules. A larger proportion of infiltrating tissue resident memory T cells (Trm) along with high T cell receptor repertoire clonality in responding nodules were validated as predictive and prognostic biomarkers in multiple cancer types using external public datasets. These results suggested that neoadjuvant programmed death 1 (PD-1)/programmed death ligand 1 inhibitors alone may not be an optimal therapeutic strategy for MPLC due to disparities in genomic alterations and immune microenvironment among different lesions. Additionally, we postulate that increased infiltration of Trm may be a unique marker of early immune responses to PD-1 blockade.


Subject(s)
Adenocarcinoma of Lung/drug therapy , Antibodies, Monoclonal, Humanized/therapeutic use , Genomics , Immune Checkpoint Inhibitors/therapeutic use , Immunotherapy , Lung Neoplasms/drug therapy , Multiple Pulmonary Nodules/drug therapy , Neoadjuvant Therapy , Neoplasms, Multiple Primary/drug therapy , Adenocarcinoma of Lung/genetics , Adenocarcinoma of Lung/immunology , Aged , Chemotherapy, Adjuvant , Female , Gene Expression Profiling , Gene Expression Regulation, Neoplastic , Humans , Lung Neoplasms/genetics , Lung Neoplasms/immunology , Multiple Pulmonary Nodules/genetics , Multiple Pulmonary Nodules/immunology , Neoplasms, Multiple Primary/genetics , Neoplasms, Multiple Primary/immunology , RNA-Seq , Time Factors , Transcriptome , Treatment Outcome , Tumor Microenvironment/immunology
16.
Signal Transduct Target Ther ; 6(1): 330, 2021 09 01.
Article in English | MEDLINE | ID: mdl-34471091

ABSTRACT

Surgery is the common treatment for early lung cancer with multiple pulmonary nodules, but it is often accompanied by the problem of significant malignancy of other nodules in non-therapeutic areas. In this study, we found that a combined treatment of local radiofrequency ablation (RFA) and melatonin (MLT) greatly improved clinical outcomes for early lung cancer patients with multiple pulmonary nodules by minimizing lung function injury and reducing the probability of malignant transformation or enlargement of nodules in non-ablated areas. Mechanically, as demonstrated in an associated mouse lung tumor model, RFA not only effectively remove treated tumors but also stimulate antitumor immunity, which could inhibit tumor growth in non-ablated areas. MLT enhanced RFA-stimulated NK activity and exerted synergistic antitumor effects with RFA. Transcriptomics and proteomics analyses of residual tumor tissues revealed enhanced oxidative phosphorylation and reduced acidification as well as hypoxia in the tumor microenvironment, which suggests reprogrammed tumor metabolism after combined treatment with RFA and MLT. Analysis of residual tumor further revealed the depressed activity of MAPK, NF-kappa B, Wnt, and Hedgehog pathways and upregulated P53 pathway in tumors, which was in line with the inhibited tumor growth. Combined RFA and MLT treatment also reversed the Warburg effect and decreased tumor malignancy. These findings thus demonstrated that combined treatment of RFA and MLT effectively inhibited the malignancy of non-ablated nodules and provided an innovative non-invasive strategy for treating early lung tumors with multiple pulmonary nodules. Trial registration: www.chictr.org.cn , identifier ChiCTR2100042695, http://www.chictr.org.cn/showproj.aspx?proj=120931 .


Subject(s)
Lung Neoplasms/drug therapy , Lung Neoplasms/radiotherapy , Melatonin/administration & dosage , Multiple Pulmonary Nodules/drug therapy , Multiple Pulmonary Nodules/radiotherapy , Adult , Aged , Aged, 80 and over , Animals , Cell Proliferation/drug effects , Cell Proliferation/radiation effects , Combined Modality Therapy , Female , Hedgehog Proteins/genetics , Heterografts , Humans , Kaplan-Meier Estimate , Killer Cells, Natural/drug effects , Killer Cells, Natural/radiation effects , Lung Neoplasms/genetics , Lung Neoplasms/pathology , Male , Mice , Middle Aged , Mitogen-Activated Protein Kinase Kinases/genetics , Multiple Pulmonary Nodules/genetics , Multiple Pulmonary Nodules/pathology , NF-kappa B/genetics , Neoplasm, Residual/drug therapy , Neoplasm, Residual/genetics , Neoplasm, Residual/pathology , Neoplasm, Residual/radiotherapy , Progression-Free Survival , Radiofrequency Ablation/adverse effects , Treatment Outcome , Wnt Signaling Pathway/drug effects , Wnt Signaling Pathway/radiation effects
18.
Pediatr Rheumatol Online J ; 18(1): 40, 2020 May 24.
Article in English | MEDLINE | ID: mdl-32448396

ABSTRACT

BACKGROUND: Henoch-Schönlein purpura (HSP) is the most common vasculitis of childhood. It has a characteristic rash described as palpable purpura that most frequently affects the distal lower extremities and buttocks. HSP rarely presents with bullous rash nor pulmonary nodules. CASE PRESENTATION: We present a novel case of a 12-years-old female with recurrent pediatric HSP with a combination of the rare manifestations of bullous rash and pulmonary nodules. She initially presented with the bullous rash, chest pain, cough, and abdominal pain. Patient was successfully treated with intravenous pulse corticosteroids followed by a high dose oral corticosteroid taper, with resolution of the bullous rash and pulmonary nodules. CONCLUSION: The rare manifestations of scarring bullous rash and pulmonary nodules can be presenting features of pediatric HSP, the combination of which has not been previously reported. The treatment of intravenous corticosteroid resolved patient's abdominal symptoms, rash and pulmonary nodules.


Subject(s)
IgA Vasculitis/physiopathology , Multiple Pulmonary Nodules/physiopathology , Skin Diseases, Vesiculobullous/physiopathology , Biopsy, Fine-Needle , Bronchoalveolar Lavage Fluid , Chest Pain/drug therapy , Chest Pain/physiopathology , Child , Complement C3 , Cough , Female , Fluorescent Antibody Technique, Direct , Gabapentin/therapeutic use , Glucocorticoids/therapeutic use , Humans , IgA Vasculitis/diagnostic imaging , IgA Vasculitis/drug therapy , IgA Vasculitis/pathology , Image-Guided Biopsy , Immunoglobulin A , Leg Dermatoses/drug therapy , Leg Dermatoses/pathology , Leg Dermatoses/physiopathology , Multiple Pulmonary Nodules/diagnostic imaging , Multiple Pulmonary Nodules/drug therapy , Neuralgia/drug therapy , Neuralgia/physiopathology , Recurrence , Skin Diseases, Vesiculobullous/drug therapy , Skin Diseases, Vesiculobullous/pathology , Tomography, X-Ray Computed
19.
Internist (Berl) ; 50(1): 91-4, 2009 Jan.
Article in German | MEDLINE | ID: mdl-18979079

ABSTRACT

Even people which have never smoked can develop lung cancer. In this population a mutation in the exons 19-21 of the Epidermal Growth Factor Receptor (EGFR) can be detected. For this patient group targeted therapies with EGFR tyrosinkinase inhibitors are available. In this case report we describe a 37 year old non-smoker who developed a non-small cell lung cancer. Following therapy with Erlotinib a partial response could be achieved.


Subject(s)
Lung Neoplasms/complications , Lung Neoplasms/drug therapy , Multiple Pulmonary Nodules/complications , Multiple Pulmonary Nodules/drug therapy , Pericardial Effusion/etiology , Pericardial Effusion/prevention & control , Quinazolines/therapeutic use , Adult , Erlotinib Hydrochloride , Hemorrhage/diagnosis , Hemorrhage/etiology , Hemorrhage/prevention & control , Humans , Lung Neoplasms/diagnosis , Male , Multiple Pulmonary Nodules/diagnosis , Pericardial Effusion/diagnosis , Protein Kinase Inhibitors/therapeutic use , Smoking , Treatment Outcome
20.
BMJ Case Rep ; 12(12)2019 Dec 08.
Article in English | MEDLINE | ID: mdl-31818888

ABSTRACT

An 18-year-old woman was admitted with abdominal pain and hematochezia. She was previously healthy until 15 years of age and was subsequently diagnosed with hypogammaglobulinemia, protein-losing enteropathy, a benign temporal lobe brain lesion/orbital fibroadenoma, autoimmune hepatitis, iron deficiency anaemia and hypothyroidism. She developed respiratory distress and hypoxemia. She was found to have nodules on chest CT scan. She was diagnosed with cytotoxic T-lymphocyte-associated antigen 4 deficiency via genetic testing.


Subject(s)
CTLA-4 Antigen/deficiency , Multiple Pulmonary Nodules/diagnostic imaging , Abatacept/therapeutic use , Abdominal Pain/etiology , Adolescent , Diagnosis, Differential , Female , Gastrointestinal Hemorrhage/etiology , Humans , Immunosuppressive Agents/therapeutic use , Multiple Pulmonary Nodules/drug therapy , Multiple Pulmonary Nodules/immunology , Sirolimus/therapeutic use , Treatment Outcome
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