日本語フィールド
著者：○Makoto Eriguchi, Hiroo Katsuya, Keisuke Kidoguchi, Hiroshi Ureshino, Nishi Masanori, Masashi Nishihara, Motoshi Sonoda, Masataka Ishimura, Shinya Kimura, Hideo Hara題名：CASE REPORT Immune dysregulation syndrome with CTLA4 mutation showing multiple central nervous system lesions発表情報：Clinical and experimental neuroimmunology 巻: 13 号: 2 ページ: 116-120キーワード：概要：Background
Haploinsufficiency of cytotoxic T lymphocyte antigen 4 (CTLA4) is a primary immunodeficiency disease characterized by hypogammaglobulinemia and diverse autoimmune disorders. Although central nervous system (CNS) lesions have been described in patients with CTLA4 insufficiency, there have been few reports in the field of neurology.
Case presentation
A 23-year-old man was referred to our hospital with dizziness and abnormal head magnetic resonance imaging (MRI) showing hyperintensity in the left cerebellar hemisphere. He was diagnosed with immune thrombocytopenia and hypogammaglobulinemia at age 8 years. He had repeated mild upper respiratory infections. Neurological events had occurred four times, with a long spinal lesion extending over three vertebral segments. High-dose intravenous methylprednisolone was effective for acute attacks, and low-dose prednisolone prevented relapses for 7 years. When he reached the age of 37 years, he developed severe diarrhea and immune cytopenia and lost 6 kg in half a year. It was suspected that the patient had primary immunodeficiency due to his history of recurrent infections, hypogammaglobulinemia, and severe diarrhea. Genome sequencing showed a heterozygous CTLA4 variant in exon 2. Abatacept therapy with prednisolone and cyclosporine was effective for diarrhea and autoimmune cytopenia.
Conclusions
A patient with CTLA4 variant may develop multiple CNS lesions including longitudinally-extended spinal cord lesions. Since there is effective targeted immunotherapy, a complete immunological workup is needed for early diagnosis when a patient presents with CNS lesions and multi-organ symptoms.抄録：英語フィールド
Author：○Makoto Eriguchi, Hiroo Katsuya, Keisuke Kidoguchi, Hiroshi Ureshino, Nishi Masanori, Masashi Nishihara, Motoshi Sonoda, Masataka Ishimura, Shinya Kimura, Hideo HaraTitle：CASE REPORT Immune dysregulation syndrome with CTLA4 mutation showing multiple central nervous system lesionsAnnouncement information:Clinical and experimental neuroimmunology Vol: 13 Issue: 2 Page: 116-120An abstract：Background
Haploinsufficiency of cytotoxic T lymphocyte antigen 4 (CTLA4) is a primary immunodeficiency disease characterized by hypogammaglobulinemia and diverse autoimmune disorders. Although central nervous system (CNS) lesions have been described in patients with CTLA4 insufficiency, there have been few reports in the field of neurology.
Case presentation
A 23-year-old man was referred to our hospital with dizziness and abnormal head magnetic resonance imaging (MRI) showing hyperintensity in the left cerebellar hemisphere. He was diagnosed with immune thrombocytopenia and hypogammaglobulinemia at age 8 years. He had repeated mild upper respiratory infections. Neurological events had occurred four times, with a long spinal lesion extending over three vertebral segments. High-dose intravenous methylprednisolone was effective for acute attacks, and low-dose prednisolone prevented relapses for 7 years. When he reached the age of 37 years, he developed severe diarrhea and immune cytopenia and lost 6 kg in half a year. It was suspected that the patient had primary immunodeficiency due to his history of recurrent infections, hypogammaglobulinemia, and severe diarrhea. Genome sequencing showed a heterozygous CTLA4 variant in exon 2. Abatacept therapy with prednisolone and cyclosporine was effective for diarrhea and autoimmune cytopenia.
Conclusions
A patient with CTLA4 variant may develop multiple CNS lesions including longitudinally-extended spinal cord lesions. Since there is effective targeted immunotherapy, a complete immunological workup is needed for early diagnosis when a patient presents with CNS lesions and multi-organ symptoms.