CTLA-4 gene mutation and multiple sclerosis: A case report and literature review

Ting-Wei Lin; Ya-Chiao Hu; Yao-Hsu Yang; Yin-Hsiu Chien; Ni-Chung Lee; Hsin-Hui Yu; Bor-Luen Chiang; Li-Chieh Wang

doi:10.1016/j.jmii.2021.10.009

CTLA-4 gene mutation and multiple sclerosis: A case report and literature review

J Microbiol Immunol Infect. 2022 Jun;55(3):545-548. doi: 10.1016/j.jmii.2021.10.009. Epub 2021 Nov 13.

Authors

Ting-Wei Lin¹, Ya-Chiao Hu¹, Yao-Hsu Yang¹, Yin-Hsiu Chien², Ni-Chung Lee², Hsin-Hui Yu¹, Bor-Luen Chiang³, Li-Chieh Wang⁴

Affiliations

¹ Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
² Department of Genetics, National Taiwan University Hospital, Taipei, Taiwan.
³ Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan; Department of Medical Research, National Taiwan University Hospital, Taipei, Taiwan; Graduate Institute of Clinical Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
⁴ Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address: lcwang5@ntu.edu.tw.

PMID: 34824019
DOI: 10.1016/j.jmii.2021.10.009

Abstract

We reported a patient with autoimmunity (multiple sclerosis), immunodeficiency (hypogammaglobulinemia with severe infections), enteropathy (diarrhea with intestinal inflammation), splenomegaly, lymphadenopathy and lymphocytic infiltration of non-lymphoid organs (lung, gut and brain). The patient was found to have a heterozygous mutation in cytotoxic T lymphocyte antigen-4, and had excellent response to abatacept.

Keywords: Abatacept; Cytotoxic T lymphocyte antigen-4; Multiple sclerosis; Primary immunodeficiency.

Publication types

Case Reports
Review

MeSH terms

Abatacept / genetics
CTLA-4 Antigen / genetics
Humans
Immunologic Deficiency Syndromes*
Multiple Sclerosis* / diagnosis
Multiple Sclerosis* / genetics
Mutation

Substances

CTLA-4 Antigen
Abatacept