Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene:A case report  

作　　者：Ugur Musabak Tuba Erdoğan Serdar Ceylaner EmreÖzbek Nuretdin Suna Binnaz HandanÖzdemir 

机构地区：[1]Department of Immunology and Allergy,Baskent University School of Medicine,Ankara 06490,Ankara,Turkey [2]Department of Medical Genetics,Lokman Hekim University,Ankara 06000,Turkey [3]Department of Medical Genetics,Intergen Genetic and Rare Disease Diagnosis and Reseach Center,Ankara 06000,Turkey [4]Department of Immunology-Allergy,Etlik City Hospital,Ankara 06490,Ankara,Turkey [5]Division of Gastroenterology,Baskent University School of Medicine,Ankara 06000,Turkey [6]Department of Pathology,Baskent University,Ankara 06000,Turkey

出　　处：《World Journal of Clinical Cases》2023年第26期6176-6182,共7页世界临床病例杂志

摘　　要：BACKGROUND Cytotoxic T Lymphocyte Antigen-4(CTLA4)deficiency is a genetic defect that causes a common variable immunodeficiency(CVID)clinical phenotype.Several studies have reported an association between CTLA mutations or variants and various autoimmune diseases.Targeted therapy models,which have become increasingly popular in recent years,have been successful in treating CTLA4 deficiency.In this article,we discuss the clinical outcomes of abatacept treatment in a patient with CTLA4 and lipopolysaccharide-responsive beige-like anchor(LRBA)variants that was previously diagnosed with CVID.CASE SUMMARY A 25-year-old female patient,who was visibly cachectic,visited our clinic over the course of five years,complaining of diarrhea.The patient was diagnosed with ulcerative colitis in the centers she had visited previously,and various treatments were administered;however,clinical improvement could not be achieved.Severe hypokalemia was detected during an examination.Her serum immunoglobulin levels,CD19+B-cell percentage,and CD4/CD8 ratio were low.An endoscopic examination revealed erosive gastritis,nodular duodenitis,and pancolitis.Histopathological findings supported the presence of immune mediated enteropathy.When the patient was examined carefully,she was diagnosed with CVID,and intravenous immunoglobulin treatment was initiated.Peroral and rectal therapeutic drugs including steroid therapy episodes were administered to treat the immune mediated enteropathy.Strict follow-ups and treatment were performed due to the hypokalemia.After conducting genetic analyses,the CTLA4 and LRBA variants were identified and abatacept treatment was initiated.With targeted therapy,the patient’s clinical and laboratory findings rapidly regressed,and there was an increase in weight.CONCLUSION The heterozygous CTLA4 variant identified in the patient has been previously shown to be associated with various autoimmune diseases.The successful clinical outcome of abatacept treatment in this patient supports the idea that this variant plays a

关 键 词：Common variable immunodeficiency ABATACEPT CTLA4 antigen Case report 

分 类 号：R574[医药卫生—消化系统] R733.1[医药卫生—内科学]