Allograft dysfunction after lung transplantation for COPA syndrome: A case report and literature review.
Mod Rheumatol Case Rep
; 6(2): 314-318, 2022 06 24.
Article
em En
| MEDLINE
| ID: mdl-35079820
ABSTRACT
Coatomer subunit alpha (COPA) syndrome is an autoinflammatory disease with autoimmune and autoinflammatory manifestations affecting lungs, joints, and kidneys. COPA syndrome is caused by heterozygous loss-of-function mutations in COPA gene, encoding α subunit of coatmer protein complex I (COP-I) coated vesicles. Mutant COPA induces constitutive activation of stimulator of interferon genes, leading to systemic inflammation and elevated type I interferon response. We have previously reported a Japanese family of COPA syndrome with a novel V242G mutation. Two out of four patients required lung transplantation due to intractable interstitial lung disease and respiratory failure. Both of them deceased after lung transplantation, one due to sepsis and the other due to allograft dysfunction possibly caused by the reccurent interstitial lung disease. The literature review indentified unfavorable outcome of the solid organ transplant in COPA syndrome and its related disease, however, precise clinico-pathological description of these cases has been scarce. Here, we report in detail the clinical course of our cases to clarify the pathophysiology of allograft dysfunction in COPA syndrome and propose potential therapeutic approaches to improve post-transplant graft survival.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Transplante de Pulmão
/
Doenças Pulmonares Intersticiais
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Humans
Idioma:
En
Revista:
Mod Rheumatol Case Rep
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Japão