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Musabak U, Erdoğan T, Ceylaner S, Özbek E, Suna N, Özdemir BH. Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene: A case report. World J Clin Cases 2023; 11(26): 6176-6182 [PMID: 37731560 DOI: 10.12998/wjcc.v11.i26.6176]
World J Clin Cases. Sep 16, 2023; 11(26): 6176-6182 Published online Sep 16, 2023. doi: 10.12998/wjcc.v11.i26.6176
Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in CTLA4 gene: A case report
Ugur Musabak, Tuba Erdoğan, Serdar Ceylaner, Emre Özbek, Nuretdin Suna, Binnaz Handan Özdemir
Ugur Musabak, Tuba Erdoğan, Department of Immunology and Allergy, Baskent University School of Medicine, Ankara 06490, Ankara, Turkey
Serdar Ceylaner, Department of Medical Genetics, Lokman Hekim University, Ankara 06000, Turkey
Serdar Ceylaner, Department of Medical Genetics, Intergen Genetic and Rare Disease Diagnosis and Reseach Center, Ankara 06000, Turkey
Emre Özbek, Department of Immunology-Allergy, Etlik City Hospital, Ankara 06490, Ankara, Turkey
Nuretdin Suna, Division of Gastroenterology, Baskent University School of Medicine, Ankara 06000, Turkey
Binnaz Handan Özdemir, Department of Pathology, Baskent University, Ankara 06000, Turkey
Author contributions: All authors contributed to prepare the manuscript.
Informed consent statement: Patient perspective: The patient was pleased to receive a final diagnosis and treatment plan after many years without a solution to her medical problems, despite extensive diagnostic procedures. Written informed consent was obtained from the patient.
Conflict-of-interest statement: All the authors declare no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Corresponding author: Emre Özbek, MD, Doctor, Department of Immunology-Allergy, Etlik City Hospital, Halil Sezai Erkut Street No. 5 Yenimahalle/Etlik, Ankara 06490, Ankara, Turkey. emreozbek55@yahoo.com.tr
Received: May 6, 2023 Peer-review started: May 6, 2023 First decision: June 13, 2023 Revised: July 18, 2023 Accepted: August 15, 2023 Article in press: August 15 , 2023 Published online: September 16, 2023 Processing time: 124 Days and 13.5 Hours
Core Tip
Core Tip: In this article, a 25-year-old female patient who applied to our outpatient clinic with the complaints of severe diarrhea and weight loss is presented. As a result of the clinical examination, laboratory tests and histopathological examinations, the patient was diagnosed with common variable immunodeficiency with severe enteropathy. Variants of uncertain significance were detected in 1 cytotoxic T lymphocyte antigen-4 (CTLA4) gene region and 2 lipopolysaccharide-responsive beige-like anchor gene regions in the patient who underwent Whole Exome Sequencing test. Although these polymorphisms have been listed as non-pathogenic in the variant database, their association with some autoimmune diseases had been shown in the literature before. CTLA-4-Ig fusion protein, which had been shown to be effective in these autoimmune diseases, was administered to our patient without delay and a dramatic improvement was achieved in clinical findings.
