Successful Treatment of Granulomatous-lymphocytic Interstitial Lung Disease in a Patient with CTLA-4 Deficiency
Common variable immunodeficiency (CVID) causes granulomatous-lymphocytic interstitial lung disease (GLILD) and has a poor prognosis. We herein report a case of GLILD in a 49-year-old woman with CTLA-4 deficiency-associated CVID. The patient presented with dyspnea that had worsened over the past two...
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| Published in | Internal Medicine Vol. 62; no. 6; pp. 871 - 875 |
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| Main Authors | , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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Japan
The Japanese Society of Internal Medicine
15.03.2023
Japan Science and Technology Agency |
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| Online Access | Get full text |
| ISSN | 0918-2918 1349-7235 1349-7235 |
| DOI | 10.2169/internalmedicine.0076-22 |
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| Abstract | Common variable immunodeficiency (CVID) causes granulomatous-lymphocytic interstitial lung disease (GLILD) and has a poor prognosis. We herein report a case of GLILD in a 49-year-old woman with CTLA-4 deficiency-associated CVID. The patient presented with dyspnea that had worsened over the past two years. A laboratory examination revealed hypoglobulinemia and pancytopenia. Chest computed tomography showed diffuse infiltrative and granular shadows in the bilateral interstitium. A flow cytometric analysis of blood cells and genetic testing confirmed CTLA-4 deficiency. We performed video-assisted thoracoscopic surgery for the pathological diagnosis of GLILD and to exclude infection and malignancy. Corticosteroid treatment successfully improved the condition of the patient. |
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| AbstractList | Common variable immunodeficiency (CVID) causes granulomatous-lymphocytic interstitial lung disease (GLILD) and has a poor prognosis. We herein report a case of GLILD in a 49-year-old woman with CTLA-4 deficiency-associated CVID. The patient presented with dyspnea that had worsened over the past two years. A laboratory examination revealed hypoglobulinemia and pancytopenia. Chest computed tomography showed diffuse infiltrative and granular shadows in the bilateral interstitium. A flow cytometric analysis of blood cells and genetic testing confirmed CTLA-4 deficiency. We performed video-assisted thoracoscopic surgery for the pathological diagnosis of GLILD and to exclude infection and malignancy. Corticosteroid treatment successfully improved the condition of the patient.Common variable immunodeficiency (CVID) causes granulomatous-lymphocytic interstitial lung disease (GLILD) and has a poor prognosis. We herein report a case of GLILD in a 49-year-old woman with CTLA-4 deficiency-associated CVID. The patient presented with dyspnea that had worsened over the past two years. A laboratory examination revealed hypoglobulinemia and pancytopenia. Chest computed tomography showed diffuse infiltrative and granular shadows in the bilateral interstitium. A flow cytometric analysis of blood cells and genetic testing confirmed CTLA-4 deficiency. We performed video-assisted thoracoscopic surgery for the pathological diagnosis of GLILD and to exclude infection and malignancy. Corticosteroid treatment successfully improved the condition of the patient. Common variable immunodeficiency (CVID) causes granulomatous-lymphocytic interstitial lung disease (GLILD) and has a poor prognosis. We herein report a case of GLILD in a 49-year-old woman with CTLA-4 deficiency-associated CVID. The patient presented with dyspnea that had worsened over the past two years. A laboratory examination revealed hypoglobulinemia and pancytopenia. Chest computed tomography showed diffuse infiltrative and granular shadows in the bilateral interstitium. A flow cytometric analysis of blood cells and genetic testing confirmed CTLA-4 deficiency. We performed video-assisted thoracoscopic surgery for the pathological diagnosis of GLILD and to exclude infection and malignancy. Corticosteroid treatment successfully improved the condition of the patient. |
| ArticleNumber | 0076-22 |
| Author | Kimizuka, Yoshifumi Serizawa, Yusuke Matsukuma, Susumu Kurata, Yuhei Itou, Koki Igarashi, Syunya Sekinaka, Kanako Nonoyama, Shigeaki Ohno, Tomohiro Kawana, Akihiko Sekinaka, Yujin Miyata, Jun Fujikura, Yuji Nishimura, Masashi Nomura, Sakika Tanigaki, Tomomi |
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| Cites_doi | 10.1016/j.humpath.2015.05.011 10.1111/j.1365-2249.1994.tb06228.x 10.1136/jmedgenet-2015-103690 10.1038/s41564-020-00813-8 10.2169/internalmedicine.7757-16 10.1016/0091-6749(82)90066-5 10.1182/blood-2010-01-254417 10.2500/ajra.2013.27.3899 10.1097/RTI.0b013e318166d32f 10.1182/blood-2011-09-377945 10.1016/j.clim.2009.10.002 10.3389/fimmu.2018.01837 10.1016/j.jaip.2017.01.021 10.1182/blood-2007-11-124545 10.1016/j.jaci.2008.09.027 10.1136/bcr-2013-008905 10.1182/blood-2013-10-535393 10.1111/cge.13163 10.1038/nm.3746 10.3389/fimmu.2021.606099 10.1111/cei.12997 10.1016/j.anai.2014.04.024 |
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| Keywords | granulomatous-lymphocytic interstitial lung disease corticosteroid CTLA-4 deficiency common variable immunodeficiency video-assisted thoracoscopic surgery |
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| Notes | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 content type line 14 ObjectType-Report-1 ObjectType-Feature-4 content type line 23 ObjectType-Article-3 Correspondence to Dr. Jun Miyata, junmiyata.a2@keio.jp |
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| References | 2. Torigian DA, Larosa DF, Levinson AI, Litzky LA, Miller WT. Granulomatous-lymphocytic interstitial lung disease associated with common variable immunodeficiency: CT findings. J Thorac Imaging 23: 162-169, 2008. 21. Boujaoude Z, Arya R, Rafferty W, Dammert P. Organising pneumonia in common variable immunodeficiency. BMJ Case Rep 2013: bcr2013008905, 2013. 19. Hasegawa M, Sakai F, Okabayashi A, et al. Intravenous immunoglobulin monotherapy for granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency. Intern Med 56: 2899-2902, 2017. 9. Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med 20: 1410-1416, 2014. 17. Seow J, Graham C, Merrick B, et al. Longitudinal observation and decline of neutralizing antibody responses in the three months following SARS-CoV-2 infection in humans. Nat Microbiol 5: 1598-1607, 2020. 22. Kohler PF, Cook RD, Brown WR, Manguso RL. Common variable hypogammaglobulinemia with T-cell nodular lymphoid interstitial pneumonitis and B-cell nodular lymphoid hyperplasia: different lymphocyte populations with a similar response to prednisone therapy. J Allergy Clin Immunol 70: 299-305, 1982. 7. Verma N, Burns SO, Walker LSK, Sansom DM. Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations. Clin Exp Immunol 190: 1-7, 2017. 16. Maglione PJ, Overbey JR, Radigan L, Bagiella E, Cunningham-Rundles C. Pulmonary radiologic findings in common variable immunodeficiency: clinical and immunological correlations. Ann Allergy Asthma Immunol 113: 452-459, 2014. 20. Lamers OAC, Smits BM, Leavis HL, et al. Treatment strategies for GLILD in common variable immunodeficiency: a systematic review. Front Immunol 12: 606099, 2021. 1. Tam JS, Routes JM. Common variable immunodeficiency. Am J Rhinol Allergy 27: 260-265, 2013. 4. Hurst JR, Verma N, Lowe D, et al. British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus statement on the definition, diagnosis, and management of granulomatous-lymphocytic interstitial lung disease in common variable immunodeficiency disorders. J Allergy Clin Immunol Pract 5: 938-945, 2017. 5. Park JH, Levinson AI. Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Immunol 134: 97-103. 14. Rae W, Ward D, Mattocks C, et al. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin Genet 93: 647-655. 11. Gambineri E, Perroni L, Passerini L, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 122: 1105-1112.e1, 2008. 12. Price S, Shaw PA, Seitz A, et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood 123: 1989-1999, 2014. 3. Stagg AJ, Funauchi M, Knight SC, Webster AD, Farrant J. Failure in antigen responses by T cells from patients with common variable immunodeficiency (CVID). Clin Exp Immunol 96: 48-53, 1994. 6. Bogaert DJA, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet 53: 575-590, 2016. 13. Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 112: 277-286, 2008. 15. Baumann U, Routes JM, Soler-Palacín P, Jolles S. The lung in primary immunodeficiencies: new concepts in infection and inflammation. Front Immunol 9: 1837, 2018. 10. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 119: 1650-1657, 2012. 8. Cunningham-Rundles C. How I treat common variable immune deficiency. Blood 116: 7-15, 2010. 18. Rao N, Mackinnon AC, Routes JM. Granulomatous and lymphocytic interstitial lung disease (GLILD): a spectrum of pulmonary histopathological lesions in common variable immunodeficiency (CVID) - histological and immunohistochemical analysis of 16 cases. Hum Pathol 46: 1306-1314, 2015. 11 22 12 13 14 15 16 17 18 19 AJ Stagg (3) 1994; 96 1 2 4 5 6 7 8 9 20 10 21 |
| References_xml | – reference: 1. Tam JS, Routes JM. Common variable immunodeficiency. Am J Rhinol Allergy 27: 260-265, 2013. – reference: 15. Baumann U, Routes JM, Soler-Palacín P, Jolles S. The lung in primary immunodeficiencies: new concepts in infection and inflammation. Front Immunol 9: 1837, 2018. – reference: 20. Lamers OAC, Smits BM, Leavis HL, et al. Treatment strategies for GLILD in common variable immunodeficiency: a systematic review. Front Immunol 12: 606099, 2021. – reference: 7. Verma N, Burns SO, Walker LSK, Sansom DM. Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations. Clin Exp Immunol 190: 1-7, 2017. – reference: 17. Seow J, Graham C, Merrick B, et al. Longitudinal observation and decline of neutralizing antibody responses in the three months following SARS-CoV-2 infection in humans. Nat Microbiol 5: 1598-1607, 2020. – reference: 18. Rao N, Mackinnon AC, Routes JM. Granulomatous and lymphocytic interstitial lung disease (GLILD): a spectrum of pulmonary histopathological lesions in common variable immunodeficiency (CVID) - histological and immunohistochemical analysis of 16 cases. Hum Pathol 46: 1306-1314, 2015. – reference: 9. Schubert D, Bode C, Kenefeck R, et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med 20: 1410-1416, 2014. – reference: 10. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood 119: 1650-1657, 2012. – reference: 3. Stagg AJ, Funauchi M, Knight SC, Webster AD, Farrant J. Failure in antigen responses by T cells from patients with common variable immunodeficiency (CVID). Clin Exp Immunol 96: 48-53, 1994. – reference: 8. Cunningham-Rundles C. How I treat common variable immune deficiency. Blood 116: 7-15, 2010. – reference: 12. Price S, Shaw PA, Seitz A, et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood 123: 1989-1999, 2014. – reference: 4. Hurst JR, Verma N, Lowe D, et al. British Lung Foundation/United Kingdom Primary Immunodeficiency Network Consensus statement on the definition, diagnosis, and management of granulomatous-lymphocytic interstitial lung disease in common variable immunodeficiency disorders. J Allergy Clin Immunol Pract 5: 938-945, 2017. – reference: 16. Maglione PJ, Overbey JR, Radigan L, Bagiella E, Cunningham-Rundles C. Pulmonary radiologic findings in common variable immunodeficiency: clinical and immunological correlations. Ann Allergy Asthma Immunol 113: 452-459, 2014. – reference: 13. Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 112: 277-286, 2008. – reference: 21. Boujaoude Z, Arya R, Rafferty W, Dammert P. Organising pneumonia in common variable immunodeficiency. BMJ Case Rep 2013: bcr2013008905, 2013. – reference: 2. Torigian DA, Larosa DF, Levinson AI, Litzky LA, Miller WT. Granulomatous-lymphocytic interstitial lung disease associated with common variable immunodeficiency: CT findings. J Thorac Imaging 23: 162-169, 2008. – reference: 5. Park JH, Levinson AI. Granulomatous-lymphocytic interstitial lung disease (GLILD) in common variable immunodeficiency (CVID). Clin Immunol 134: 97-103. – reference: 11. Gambineri E, Perroni L, Passerini L, et al. Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. J Allergy Clin Immunol 122: 1105-1112.e1, 2008. – reference: 14. Rae W, Ward D, Mattocks C, et al. Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. Clin Genet 93: 647-655. – reference: 22. Kohler PF, Cook RD, Brown WR, Manguso RL. Common variable hypogammaglobulinemia with T-cell nodular lymphoid interstitial pneumonitis and B-cell nodular lymphoid hyperplasia: different lymphocyte populations with a similar response to prednisone therapy. J Allergy Clin Immunol 70: 299-305, 1982. – reference: 6. Bogaert DJA, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F. Genes associated with common variable immunodeficiency: one diagnosis to rule them all? J Med Genet 53: 575-590, 2016. – reference: 19. Hasegawa M, Sakai F, Okabayashi A, et al. Intravenous immunoglobulin monotherapy for granulomatous lymphocytic interstitial lung disease in common variable immunodeficiency. Intern Med 56: 2899-2902, 2017. – ident: 18 doi: 10.1016/j.humpath.2015.05.011 – volume: 96 start-page: 48 issn: 0009-9104 year: 1994 ident: 3 publication-title: Clinical & Experimental Immunology doi: 10.1111/j.1365-2249.1994.tb06228.x – ident: 6 doi: 10.1136/jmedgenet-2015-103690 – ident: 17 doi: 10.1038/s41564-020-00813-8 – ident: 19 doi: 10.2169/internalmedicine.7757-16 – ident: 22 doi: 10.1016/0091-6749(82)90066-5 – ident: 8 doi: 10.1182/blood-2010-01-254417 – ident: 1 doi: 10.2500/ajra.2013.27.3899 – ident: 2 doi: 10.1097/RTI.0b013e318166d32f – ident: 10 doi: 10.1182/blood-2011-09-377945 – ident: 5 doi: 10.1016/j.clim.2009.10.002 – ident: 15 doi: 10.3389/fimmu.2018.01837 – ident: 4 doi: 10.1016/j.jaip.2017.01.021 – ident: 13 doi: 10.1182/blood-2007-11-124545 – ident: 11 doi: 10.1016/j.jaci.2008.09.027 – ident: 21 doi: 10.1136/bcr-2013-008905 – ident: 12 doi: 10.1182/blood-2013-10-535393 – ident: 14 doi: 10.1111/cge.13163 – ident: 9 doi: 10.1038/nm.3746 – ident: 20 doi: 10.3389/fimmu.2021.606099 – ident: 7 doi: 10.1111/cei.12997 – ident: 16 doi: 10.1016/j.anai.2014.04.024 |
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| SubjectTerms | Blood cells Case Report Case reports Common variable immunodeficiency Common Variable Immunodeficiency - complications Common Variable Immunodeficiency - diagnosis Common Variable Immunodeficiency - drug therapy Computed tomography corticosteroid CTLA-4 Antigen CTLA-4 deficiency CTLA-4 protein Dyspnea Female Flow cytometry Genetic analysis Genetic screening Granuloma - diagnosis granulomatous-lymphocytic interstitial lung disease Humans Internal medicine Lung diseases Lung Diseases, Interstitial - complications Lung Diseases, Interstitial - diagnostic imaging Lung Diseases, Interstitial - drug therapy Malignancy Middle Aged Pancytopenia Patients Respiration Tomography, X-Ray Computed - adverse effects video-assisted thoracoscopic surgery |
| Title | Successful Treatment of Granulomatous-lymphocytic Interstitial Lung Disease in a Patient with CTLA-4 Deficiency |
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